Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274643C>A , CM000664.2:g.233274643C>A	GRCh38
NC_000002.11:g.234183289C>A , CM000664.1:g.234183289C>A	GRCh37
NC_000002.10:g.233848028C>A	NCBI36
NG_023038.1:g.28073C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.852-33C>A MANE Select	ENSP00000375872.4:n.852-33C>A
ENST00000347464.9:c.363-33C>A	ENSP00000318259.6:n.363-33C>A
ENST00000373525.9:c.420-33C>A	ENSP00000362625.5:n.420-33C>A
ENST00000392017.8:c.852-33C>A	ENSP00000375872.4:n.852-33C>A
ENST00000392018.1:c.903-33C>A	ENSP00000375873.1:n.903-33C>A
ENST00000392020.8:c.795-33C>A	ENSP00000375875.4:n.795-33C>A
ENST00000392021.7:c.*733-33C>A	ENSP00000375876.3:n.*733-33C>A
ENST00000419681.5:c.363-33C>A	ENSP00000398773.1:n.363-33C>A
ENST00000444735.5:c.471-33C>A	ENSP00000409215.1:n.471-33C>A
ENST00000474148.5:n.1647-33C>A
ENST00000479942.5:n.998-33C>A
ENST00000492298.5:n.340C>A
ENST00000498620.5:n.359-33C>A
NM_001190266.1:c.600-33C>A	NP_001177195.1:n.600-33C>A
NM_001190267.1:c.504-33C>A	NP_001177196.1:n.504-33C>A
NM_017974.3:c.795-33C>A	NP_060444.3:n.795-33C>A
NM_030803.6:c.852-33C>A	NP_110430.5:n.852-33C>A
NM_198890.2:c.363-33C>A	NP_942593.2:n.363-33C>A
XM_005246082.1:c.903-33C>A	XP_005246139.1:n.903-33C>A
XM_005246084.1:c.471-33C>A	XP_005246141.1:n.471-33C>A
XM_005246086.1:c.420-33C>A	XP_005246143.1:n.420-33C>A
XM_006712608.1:c.651-33C>A	XP_006712671.1:n.651-33C>A
XR_241242.1:n.1097-33C>A
NM_001363742.1:c.903-33C>A	NP_001350671.1:n.903-33C>A
XM_005246084.2:c.471-33C>A	XP_005246141.1:n.471-33C>A
XM_005246086.2:c.420-33C>A	XP_005246143.1:n.420-33C>A
XM_006712608.3:c.651-33C>A	XP_006712671.1:n.651-33C>A
XR_001738801.2:n.1033-33C>A
XR_241242.3:n.1084-33C>A
NM_030803.7:c.852-33C>A MANE Select	NP_110430.5:n.852-33C>A
NM_001190266.2:c.600-33C>A	NP_001177195.1:n.600-33C>A
NM_001190267.2:c.504-33C>A	NP_001177196.1:n.504-33C>A
NM_001363742.2:c.903-33C>A	NP_001350671.1:n.903-33C>A
NM_017974.4:c.795-33C>A	NP_060444.3:n.795-33C>A
NM_198890.3:c.363-33C>A	NP_942593.2:n.363-33C>A