Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34293770T>A , CM000682.2:g.34293770T>A	GRCh38
NC_000020.10:g.32881576T>A , CM000682.1:g.32881576T>A	GRCh37
NC_000020.9:g.32345237T>A	NCBI36
NG_012630.1:g.23033A>T
NG_012630.2:g.23033A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.295+311A>T MANE Select	ENSP00000217426.2:n.295+311A>T
ENST00000217426.6:c.295+311A>T	ENSP00000217426.2:n.295+311A>T
ENST00000468908.1:n.458+311A>T
ENST00000480653.5:n.342+311A>T
ENST00000538132.1:c.211+311A>T	ENSP00000442820.1:n.211+311A>T
ENST00000606061.1:n.866A>T
NM_000687.2:c.295+311A>T	NP_000678.1:n.295+311A>T
NM_001161766.1:c.211+311A>T	NP_001155238.1:n.211+311A>T
XM_005260316.3:c.211+311A>T	XP_005260373.1:n.211+311A>T
XM_005260317.1:c.211+311A>T	XP_005260374.1:n.211+311A>T
XM_011528656.1:c.211+311A>T	XP_011526958.1:n.211+311A>T
XM_011528657.1:c.211+311A>T	XP_011526959.1:n.211+311A>T
XM_011528658.1:c.211+311A>T	XP_011526960.1:n.211+311A>T
XM_011528659.1:c.211+311A>T	XP_011526961.1:n.211+311A>T
XM_011528660.1:c.211+311A>T	XP_011526962.1:n.211+311A>T
NM_000687.3:c.295+311A>T	NP_000678.1:n.295+311A>T
NM_001322084.1:c.211+311A>T	NP_001309013.1:n.211+311A>T
NM_001322085.1:c.211+311A>T	NP_001309014.1:n.211+311A>T
NM_001322086.1:c.301+311A>T	NP_001309015.1:n.301+311A>T
NM_001362750.1:c.295+311A>T	NP_001349679.1:n.295+311A>T
XM_005260317.2:c.211+311A>T	XP_005260374.1:n.211+311A>T
XM_011528656.3:c.301+311A>T	XP_011526958.2:n.301+311A>T
XM_011528657.2:c.301+311A>T	XP_011526959.2:n.301+311A>T
XM_011528658.3:c.301+311A>T	XP_011526960.2:n.301+311A>T
XM_017027709.2:c.295+311A>T	XP_016883198.1:n.295+311A>T
XM_017027710.2:c.-130+311A>T	XP_016883199.1:n.-130+311A>T
NM_000687.4:c.295+311A>T MANE Select	NP_000678.1:n.295+311A>T
NM_001322084.2:c.211+311A>T	NP_001309013.1:n.211+311A>T
NM_001322085.2:c.211+311A>T	NP_001309014.1:n.211+311A>T
NM_001322086.2:c.301+311A>T	NP_001309015.1:n.301+311A>T
NM_001362750.2:c.295+311A>T	NP_001349679.1:n.295+311A>T
NM_001161766.2:c.211+311A>T	NP_001155238.1:n.211+311A>T