Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.209880957C>A , CM000664.2:g.209880957C>A	GRCh38
NC_000002.11:g.210745681C>A , CM000664.1:g.210745681C>A	GRCh37
NC_000002.10:g.210453926C>A	NCBI36
NG_051361.1:g.114033C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001371986.1:c.3977-4C>A MANE Select	NP_001358915.1:n.3977-4C>A
ENST00000673920.1:c.3977-4C>A MANE Select	ENSP00000501211.1:n.3977-4C>A
NM_032504.1:c.3983-4C>A	NP_115893.1:n.3983-4C>A
NM_032504.2:c.3983-4C>A	NP_115893.1:n.3983-4C>A
NM_182587.3:c.3968-4C>A	NP_872393.3:n.3968-4C>A
NM_182587.4:c.3968-4C>A	NP_872393.3:n.3968-4C>A
ENST00000272845.10:c.3968-4C>A	ENSP00000272845.5:n.3968-4C>A
ENST00000439458.5:c.3983-4C>A	ENSP00000391088.1:n.3983-4C>A
ENST00000489023.5:n.1508-4C>A
ENST00000673951.1:c.3977-4C>A	ENSP00000501012.1:n.3977-4C>A
XM_005246476.1:c.3977-4C>A	XP_005246533.1:n.3977-4C>A
XM_011511004.1:c.4019-4C>A	XP_011509306.1:n.4019-4C>A
XM_011511005.1:c.4019-4C>A	XP_011509307.1:n.4019-4C>A
XM_011511006.1:c.4013-4C>A	XP_011509308.1:n.4013-4C>A
XM_011511007.1:c.3983-4C>A	XP_011509309.1:n.3983-4C>A
XM_011511008.1:c.4019-4C>A	XP_011509310.1:n.4019-4C>A
XM_011511009.1:c.4019-4C>A	XP_011509311.1:n.4019-4C>A
XM_011511010.1:c.4019-4C>A	XP_011509312.1:n.4019-4C>A
XM_011511010.2:c.4019-4C>A	XP_011509312.1:n.4019-4C>A
XM_011511011.1:c.4019-4C>A	XP_011509313.1:n.4019-4C>A
XM_011511012.1:c.4019-4C>A	XP_011509314.1:n.4019-4C>A
XM_017003884.1:c.4004-4C>A	XP_016859373.1:n.4004-4C>A
XM_017003885.1:c.3977-4C>A	XP_016859374.1:n.3977-4C>A
XM_017003886.1:c.4019-4C>A	XP_016859375.1:n.4019-4C>A
XM_017003887.1:c.4019-4C>A	XP_016859376.1:n.4019-4C>A
XM_017003888.1:c.3977-4C>A	XP_016859377.1:n.3977-4C>A
XM_017003889.1:c.3977-4C>A	XP_016859378.1:n.3977-4C>A
XM_017003890.1:c.3962-4C>A	XP_016859379.1:n.3962-4C>A
XM_017003891.1:c.3665-4C>A	XP_016859380.1:n.3665-4C>A
XM_017003892.1:c.1502-4C>A	XP_016859381.1:n.1502-4C>A
XM_017003893.1:c.4019-4C>A	XP_016859382.1:n.4019-4C>A
XM_017003894.1:c.203-4C>A	XP_016859383.1:n.203-4C>A
XR_002959283.1:n.4099-4C>A