Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118507610G>A , CM000673.2:g.118507610G>A	GRCh38
NC_000011.9:g.118378325G>A , CM000673.1:g.118378325G>A	GRCh37
NC_000011.8:g.117883535G>A	NCBI36
NG_027813.1:g.76121G>A , LRG_613:g.76121G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.10835+1G>A MANE Select	NP_001184033.1:n.10835+1G>A
ENST00000534358.8:c.10835+1G>A MANE Select	ENSP00000436786.2:n.10835+1G>A
NM_001197104.1:c.10835+1G>A , LRG_613t1:c.10835+1G>A	NP_001184033.1:n.10835+1G>A
NM_005933.3:c.10826+1G>A	NP_005924.2:n.10826+1G>A
NM_005933.4:c.10826+1G>A	NP_005924.2:n.10826+1G>A
ENST00000389506.10:c.10826+1G>A	ENSP00000374157.5:n.10826+1G>A
ENST00000389506.9:c.10826+1G>A	ENSP00000374157.5:n.10826+1G>A
ENST00000531904.7:c.10934+1G>A	ENSP00000432391.3:n.10934+1G>A
ENST00000534085.1:n.168G>A
ENST00000534085.2:n.1115G>A
ENST00000534358.5:c.10835+1G>A	ENSP00000436786.1:n.10835+1G>A
ENST00000647944.1:c.485+1G>A	ENSP00000498134.1:n.485+1G>A
ENST00000649699.1:c.10712+1G>A	ENSP00000496927.1:n.10712+1G>A
ENST00000649878.1:c.182+1G>A	ENSP00000497891.1:n.182+1G>A
ENST00000649878.2:c.4874+1G>A	ENSP00000497891.2:n.4874+1G>A
ENST00000685397.1:c.4793+964G>A	ENSP00000509586.1:n.4793+964G>A
ENST00000686370.1:c.4895+1G>A	ENSP00000509179.1:n.4895+1G>A
ENST00000691053.1:c.10907+1G>A	ENSP00000509168.1:n.10907+1G>A
ENST00000710560.1:c.10925+1G>A	ENSP00000518343.1:n.10925+1G>A
XM_006718839.2:c.8318+1G>A	XP_006718902.2:n.8318+1G>A
XM_006718839.3:c.8318+1G>A	XP_006718902.2:n.8318+1G>A
XM_011542829.1:c.10934+1G>A	XP_011541131.1:n.10934+1G>A
XM_011542829.2:c.10934+1G>A	XP_011541131.1:n.10934+1G>A
XM_011542830.1:c.10931+1G>A	XP_011541132.1:n.10931+1G>A
XM_011542830.2:c.10931+1G>A	XP_011541132.1:n.10931+1G>A
XM_011542831.1:c.10925+1G>A	XP_011541133.1:n.10925+1G>A
XM_011542831.2:c.10925+1G>A	XP_011541133.1:n.10925+1G>A
XM_011542832.1:c.8741+1G>A	XP_011541134.1:n.8741+1G>A
XM_011542833.1:c.8417+1G>A	XP_011541135.1:n.8417+1G>A
XM_011542833.2:c.8417+1G>A	XP_011541135.1:n.8417+1G>A