Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523039T>A , CM000671.2:g.131523039T>A	GRCh38
NC_000009.11:g.134398426T>A , CM000671.1:g.134398426T>A	GRCh37
NC_000009.10:g.133388247T>A	NCBI36
NG_008896.1:g.25138T>A
NG_008896.2:g.25138T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1949T>A	ENSP00000343034.7:p.Leu650His
ENST00000404875.7:n.2651T>A
ENST00000423007.6:c.2168T>A	ENSP00000404119.2:p.Leu723His
ENST00000677295.2:c.*2455T>A	ENSP00000504346.2:n.*2455T>A
ENST00000678264.2:c.*2294T>A	ENSP00000503157.2:n.*2294T>A
ENST00000682070.1:n.2421T>A
ENST00000682639.1:c.108T>A
ENST00000682813.1:n.2508T>A
ENST00000683231.1:c.108T>A
ENST00000683392.1:n.4703T>A
ENST00000683712.1:n.2516T>A
ENST00000683900.1:n.4011T>A
ENST00000684062.1:n.2777T>A
ENST00000684399.1:c.108T>A
ENST00000684579.1:n.3957T>A
ENST00000341012.12:c.1949T>A	ENSP00000343034.7:p.Leu650His
ENST00000372220.5:c.980T>A	ENSP00000361294.5:p.Leu327His
ENST00000372228.9:c.2177T>A	ENSP00000361302.3:p.Leu726His
ENST00000402686.8:c.2111T>A MANE Select	ENSP00000385797.4:p.Leu704His
ENST00000676640.1:c.2111T>A	ENSP00000503281.1:p.Leu704His
ENST00000676803.1:c.1172T>A	ENSP00000503093.1:p.Leu391His
ENST00000676835.1:c.*1326T>A	ENSP00000502911.1:n.*1326T>A
ENST00000677029.1:c.1655T>A	ENSP00000502936.1:p.Leu552His
ENST00000677099.1:c.*1821T>A	ENSP00000504553.1:n.*1821T>A
ENST00000677216.1:c.1760T>A	ENSP00000503772.1:p.Leu587His
ENST00000677295.1:c.*1333T>A	ENSP00000504346.1:n.*1333T>A
ENST00000677444.1:c.2056T>A
ENST00000677586.1:n.1478T>A
ENST00000677626.1:c.1760T>A	ENSP00000503552.1:p.Leu587His
ENST00000677853.1:c.*1119T>A	ENSP00000503488.1:n.*1119T>A
ENST00000678264.1:c.*1488T>A	ENSP00000503157.1:n.*1488T>A
ENST00000678303.1:c.2021T>A	ENSP00000503696.1:p.Leu674His
ENST00000678366.1:c.*2360T>A	ENSP00000504353.1:n.*2360T>A
ENST00000678546.1:c.*2056T>A	ENSP00000503062.1:n.*2056T>A
ENST00000678548.1:c.*2250T>A	ENSP00000503934.1:n.*2250T>A
ENST00000678626.1:n.1947T>A
ENST00000678739.1:c.*2277T>A	ENSP00000503806.1:n.*2277T>A
ENST00000678833.1:c.*1863T>A	ENSP00000503893.1:n.*1863T>A
ENST00000679023.1:c.1949T>A	ENSP00000503718.1:p.Leu650His
ENST00000679076.1:c.1730T>A
ENST00000679111.1:c.*867T>A	ENSP00000504257.1:n.*867T>A
ENST00000679189.1:c.1760T>A	ENSP00000503356.1:p.Leu587His
ENST00000341012.11:c.1949T>A	ENSP00000343034.7:p.Leu650His
ENST00000372220.4:c.974T>A	ENSP00000361294.4:p.Leu325His
ENST00000372228.7:c.2177T>A	ENSP00000361302.3:p.Leu726His
ENST00000402686.7:c.2111T>A	ENSP00000385797.3:p.Leu704His
ENST00000404875.6:c.1760T>A	ENSP00000384531.2:p.Leu587His
ENST00000423007.5:c.2111T>A	ENSP00000404119.1:p.Leu704His
ENST00000485278.5:n.2661T>A
NM_001077365.1:c.2111T>A	NP_001070833.1:p.Leu704His
NM_001077366.1:c.1949T>A	NP_001070834.1:p.Leu650His
NM_001136113.1:c.2111T>A	NP_001129585.1:p.Leu704His
NM_001136114.1:c.1760T>A	NP_001129586.1:p.Leu587His
NM_007171.3:c.2177T>A	NP_009102.3:p.Leu726His
XM_005272156.1:c.2177T>A	XP_005272213.1:p.Leu726His
XM_005272158.1:c.2015T>A	XP_005272215.1:p.Leu672His
XM_005272159.1:c.1826T>A	XP_005272216.1:p.Leu609His
XM_005272162.1:c.980T>A	XP_005272219.1:p.Leu327His
XM_006716932.1:c.1826T>A	XP_006716995.1:p.Leu609His
XM_011518140.1:c.2030T>A	XP_011516442.1:p.Leu677His
XM_011518141.1:c.1964T>A	XP_011516443.1:p.Leu655His
XM_011518142.1:c.1868T>A	XP_011516444.1:p.Leu623His
XM_011518143.1:c.1862T>A	XP_011516445.1:p.Leu621His
XM_011518145.1:c.1721T>A	XP_011516447.1:p.Leu574His
XM_011518147.1:c.1049T>A	XP_011516449.1:p.Leu350His
XR_929703.1:n.2353T>A
NM_001353193.1:c.2177T>A	NP_001340122.1:p.Leu726His
NM_001353194.1:c.1949T>A	NP_001340123.1:p.Leu650His
NM_001353195.1:c.1760T>A	NP_001340124.1:p.Leu587His
NM_001353196.1:c.2021T>A	NP_001340125.1:p.Leu674His
NM_001353197.1:c.2015T>A	NP_001340126.1:p.Leu672His
NM_001353198.1:c.2015T>A	NP_001340127.1:p.Leu672His
NM_001353199.1:c.1826T>A	NP_001340128.1:p.Leu609His
NM_001353200.1:c.1655T>A	NP_001340129.1:p.Leu552His
NR_148391.1:n.2161T>A
NR_148392.1:n.2379T>A
NR_148393.1:n.2300T>A
NR_148394.1:n.2054T>A
NR_148395.1:n.2452T>A
NR_148396.1:n.2086T>A
NR_148397.1:n.2211T>A
NR_148398.1:n.2166T>A
NR_148399.1:n.2692T>A
NR_148400.1:n.2291T>A
XM_005272162.3:c.980T>A	XP_005272219.1:p.Leu327His
XM_006716932.2:c.1826T>A	XP_006716995.1:p.Leu609His
XM_011518140.2:c.2030T>A	XP_011516442.1:p.Leu677His
XM_011518141.2:c.1964T>A	XP_011516443.1:p.Leu655His
XM_011518142.2:c.1868T>A	XP_011516444.1:p.Leu623His
XM_011518143.2:c.1862T>A	XP_011516445.1:p.Leu621His
XM_011518145.2:c.1721T>A	XP_011516447.1:p.Leu574His
XM_017014205.2:c.980T>A	XP_016869694.1:p.Leu327His
XM_024447380.1:c.980T>A	XP_024303148.1:p.Leu327His
XM_024447381.1:c.1286T>A	XP_024303149.1:p.Leu429His
XM_024447382.1:c.980T>A	XP_024303150.1:p.Leu327His
XR_001746160.2:n.2281T>A
XR_001746162.2:n.2486T>A
XR_001746164.1:n.2203T>A
XR_001746166.2:n.2498T>A
NM_001077365.2:c.2111T>A MANE Select	NP_001070833.1:p.Leu704His
NM_001077366.2:c.1949T>A	NP_001070834.1:p.Leu650His
NM_001136113.2:c.2111T>A	NP_001129585.1:p.Leu704His
NM_001136114.2:c.1760T>A	NP_001129586.1:p.Leu587His
NM_001353193.2:c.2177T>A	NP_001340122.2:p.Leu726His
NM_001353194.2:c.1949T>A	NP_001340123.1:p.Leu650His
NM_001353195.2:c.1760T>A	NP_001340124.1:p.Leu587His
NM_001353196.2:c.2021T>A	NP_001340125.1:p.Leu674His
NM_001353197.2:c.2015T>A	NP_001340126.2:p.Leu672His
NM_001353198.2:c.2015T>A	NP_001340127.2:p.Leu672His
NM_001353199.2:c.1826T>A	NP_001340128.2:p.Leu609His
NM_001353200.2:c.1655T>A	NP_001340129.1:p.Leu552His
NM_001374689.1:c.2099T>A	NP_001361618.1:p.Leu700His
NM_001374690.1:c.1892T>A	NP_001361619.1:p.Leu631His
NM_001374691.1:c.1760T>A	NP_001361620.1:p.Leu587His
NM_001374692.1:c.1760T>A	NP_001361621.1:p.Leu587His
NM_001374693.1:c.1760T>A	NP_001361622.1:p.Leu587His
NM_001374695.1:c.1721T>A	NP_001361624.1:p.Leu574His
NM_007171.4:c.2177T>A	NP_009102.4:p.Leu726His
NR_148391.2:n.2145T>A
NR_148392.2:n.2363T>A
NR_148393.2:n.2284T>A
NR_148394.2:n.2038T>A
NR_148395.2:n.2436T>A
NR_148396.2:n.2070T>A
NR_148397.2:n.2195T>A
NR_148398.2:n.2150T>A
NR_148399.2:n.2676T>A
NR_148400.2:n.2275T>A

Linked Data

Genomic Alleles

Transcript Alleles