Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13386154G>A , CM000673.2:g.13386154G>A	GRCh38
NC_000011.9:g.13407701G>A , CM000673.1:g.13407701G>A	GRCh37
NC_000011.8:g.13364277G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000401424.6:c.1588+363G>A	ENSP00000385915.2:n.1588+363G>A
ENST00000403290.6:c.1720+363G>A MANE Select	ENSP00000384517.1:n.1720+363G>A
ENST00000403510.8:c.1720+363G>A	ENSP00000385581.4:n.1720+363G>A
ENST00000529388.6:c.1720+363G>A	ENSP00000433571.2:n.1720+363G>A
ENST00000673626.1:c.*1599+363G>A	ENSP00000500988.1:n.*1599+363G>A
ENST00000673817.1:c.1732+363G>A	ENSP00000501212.1:n.1732+363G>A
ENST00000673834.1:c.*1583+363G>A	ENSP00000500983.1:n.*1583+363G>A
ENST00000673868.1:c.1310+363G>A
ENST00000673888.1:c.*1599+363G>A	ENSP00000501059.1:n.*1599+363G>A
ENST00000673892.1:c.*1596+363G>A	ENSP00000501106.1:n.*1596+363G>A
ENST00000674108.1:c.*1583+363G>A	ENSP00000501035.1:n.*1583+363G>A
ENST00000389707.8:c.1717+363G>A	ENSP00000374357.4:n.1717+363G>A
ENST00000401424.5:c.1591+363G>A	ENSP00000385915.1:n.1591+363G>A
ENST00000403290.5:c.1720+363G>A	ENSP00000384517.1:n.1720+363G>A
ENST00000403482.7:c.1714+363G>A	ENSP00000385897.3:n.1714+363G>A
ENST00000403510.7:c.1588+363G>A	ENSP00000385581.3:n.1588+363G>A
ENST00000472842.1:n.3194+363G>A
ENST00000524392.5:c.750+363G>A	ENSP00000436442.1:n.750+363G>A
NM_001030272.2:c.1717+363G>A	NP_001025443.1:n.1717+363G>A
NM_001030273.2:c.1588+363G>A	NP_001025444.1:n.1588+363G>A
NM_001178.5:c.1717+363G>A	NP_001169.3:n.1717+363G>A
NM_001297719.1:c.1720+363G>A	NP_001284648.1:n.1720+363G>A
NM_001297722.1:c.1720+363G>A	NP_001284651.1:n.1720+363G>A
NM_001297724.1:c.1591+363G>A	NP_001284653.1:n.1591+363G>A
XM_006718233.2:c.1735+363G>A	XP_006718296.1:n.1735+363G>A
XM_006718234.1:c.1606+363G>A	XP_006718297.1:n.1606+363G>A
XM_011520105.1:c.1732+363G>A	XP_011518407.1:n.1732+363G>A
XM_011520106.1:c.1720+363G>A	XP_011518408.1:n.1720+363G>A
XM_011520107.1:c.1717+363G>A	XP_011518409.1:n.1717+363G>A
XM_011520108.1:c.1735+363G>A	XP_011518410.1:n.1735+363G>A
XM_011520109.1:c.1735+363G>A	XP_011518411.1:n.1735+363G>A
XM_011520110.1:c.1606+363G>A	XP_011518412.1:n.1606+363G>A
XM_011520111.1:c.1606+363G>A	XP_011518413.1:n.1606+363G>A
XM_011520112.1:c.1591+363G>A	XP_011518414.1:n.1591+363G>A
XM_011520113.1:c.1588+363G>A	XP_011518415.1:n.1588+363G>A
NM_001351804.1:c.1717+363G>A	NP_001338733.1:n.1717+363G>A
NM_001351805.1:c.1681+363G>A	NP_001338734.1:n.1681+363G>A
NM_001351806.1:c.1678+363G>A	NP_001338735.1:n.1678+363G>A
NM_001351807.1:c.1735+363G>A	NP_001338736.1:n.1735+363G>A
NM_001351808.1:c.1591+363G>A	NP_001338737.1:n.1591+363G>A
NM_001351809.1:c.1669+363G>A	NP_001338738.1:n.1669+363G>A
NM_001351810.1:c.1366+363G>A	NP_001338739.1:n.1366+363G>A
NM_001351811.1:c.970+363G>A	NP_001338740.1:n.970+363G>A
NM_001351812.1:c.1669+363G>A	NP_001338741.1:n.1669+363G>A
NM_001351813.1:c.1603+363G>A	NP_001338742.1:n.1603+363G>A
NM_001351814.1:c.1735+363G>A	NP_001338743.1:n.1735+363G>A
NM_001351815.1:c.1717+363G>A	NP_001338744.1:n.1717+363G>A
NM_001351816.1:c.1591+363G>A	NP_001338745.1:n.1591+363G>A
NM_001351817.1:c.1366+363G>A	NP_001338746.1:n.1366+363G>A
NM_001351818.1:c.1588+363G>A	NP_001338747.1:n.1588+363G>A
NM_001351819.1:c.1732+363G>A	NP_001338748.1:n.1732+363G>A
NM_001351820.1:c.1591+363G>A	NP_001338749.1:n.1591+363G>A
NM_001351821.1:c.1591+363G>A	NP_001338750.1:n.1591+363G>A
NM_001351822.1:c.1591+363G>A	NP_001338751.1:n.1591+363G>A
NM_001351823.1:c.1606+363G>A	NP_001338752.1:n.1606+363G>A
NM_001351824.1:c.1720+363G>A	NP_001338753.1:n.1720+363G>A
NR_147785.1:n.2219+363G>A
NR_147786.1:n.2216+363G>A
NR_147787.1:n.2369+363G>A
NR_147788.1:n.2271+363G>A
NR_147789.1:n.2437+363G>A
NR_147790.1:n.2290+363G>A
NR_147791.1:n.2287+363G>A
XM_011520105.3:c.1861+363G>A	XP_011518407.2:n.1861+363G>A
XM_011520107.3:c.1846+363G>A	XP_011518409.2:n.1846+363G>A
XM_017017738.2:c.1864+363G>A	XP_016873227.1:n.1864+363G>A
XM_017017739.2:c.1849+363G>A	XP_016873228.1:n.1849+363G>A
XM_017017741.1:c.1732+363G>A	XP_016873230.1:n.1732+363G>A
XM_017017744.1:c.1603+363G>A	XP_016873233.1:n.1603+363G>A
XM_017017748.1:c.1588+363G>A	XP_016873237.1:n.1588+363G>A
XM_024448522.1:c.1669+363G>A	XP_024304290.1:n.1669+363G>A
XR_001747876.2:n.2417+363G>A
XR_002957147.1:n.2432+363G>A
NM_001030272.3:c.1717+363G>A	NP_001025443.1:n.1717+363G>A
NM_001030273.3:c.1588+363G>A	NP_001025444.1:n.1588+363G>A
NM_001178.6:c.1717+363G>A	NP_001169.3:n.1717+363G>A
NM_001297719.2:c.1720+363G>A MANE Select	NP_001284648.1:n.1720+363G>A
NM_001297722.2:c.1720+363G>A	NP_001284651.1:n.1720+363G>A
NM_001297724.2:c.1591+363G>A	NP_001284653.1:n.1591+363G>A
NM_001351805.2:c.1681+363G>A	NP_001338734.1:n.1681+363G>A
NM_001351806.2:c.1678+363G>A	NP_001338735.1:n.1678+363G>A
NM_001351807.2:c.1735+363G>A	NP_001338736.1:n.1735+363G>A
NM_001351808.2:c.1591+363G>A	NP_001338737.1:n.1591+363G>A
NM_001351809.2:c.1669+363G>A	NP_001338738.1:n.1669+363G>A
NM_001351810.2:c.1366+363G>A	NP_001338739.1:n.1366+363G>A
NM_001351811.2:c.970+363G>A	NP_001338740.1:n.970+363G>A
NM_001351812.2:c.1669+363G>A	NP_001338741.1:n.1669+363G>A
NM_001351813.2:c.1603+363G>A	NP_001338742.1:n.1603+363G>A
NM_001351814.2:c.1735+363G>A	NP_001338743.1:n.1735+363G>A
NM_001351815.2:c.1717+363G>A	NP_001338744.1:n.1717+363G>A
NM_001351816.2:c.1591+363G>A	NP_001338745.1:n.1591+363G>A
NM_001351817.2:c.1366+363G>A	NP_001338746.1:n.1366+363G>A
NM_001351818.2:c.1588+363G>A	NP_001338747.1:n.1588+363G>A
NM_001351819.2:c.1732+363G>A	NP_001338748.1:n.1732+363G>A
NM_001351820.2:c.1591+363G>A	NP_001338749.1:n.1591+363G>A
NM_001351821.2:c.1591+363G>A	NP_001338750.1:n.1591+363G>A
NM_001351822.2:c.1591+363G>A	NP_001338751.1:n.1591+363G>A
NM_001351823.2:c.1606+363G>A	NP_001338752.1:n.1606+363G>A
NM_001351824.2:c.1720+363G>A	NP_001338753.1:n.1720+363G>A
NR_147785.2:n.2156+363G>A
NR_147786.2:n.2153+363G>A
NR_147787.2:n.2306+363G>A
NR_147788.2:n.2208+363G>A
NR_147789.2:n.2374+363G>A
NR_147790.2:n.2227+363G>A
NR_147791.2:n.2224+363G>A

Linked Data

Genomic Alleles

Transcript Alleles