Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34834604A>G , CM000683.2:g.34834604A>G	GRCh38
NC_000021.8:g.36206901A>G , CM000683.1:g.36206901A>G	GRCh37
NC_000021.7:g.35128771A>G	NCBI36
NG_011402.2:g.1155108T>C , LRG_482:g.1155108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.614-3T>C MANE Select	ENSP00000501943.1:n.614-3T>C
ENST00000300305.7:c.614-3T>C	ENSP00000300305.3:n.614-3T>C
ENST00000344691.8:c.533-3T>C	ENSP00000340690.4:n.533-3T>C
ENST00000358356.9:c.533-3T>C	ENSP00000351123.5:n.533-3T>C
ENST00000399237.6:c.578-3T>C	ENSP00000382182.2:n.578-3T>C
ENST00000399240.5:c.532+24870T>C	ENSP00000382184.1:n.532+24870T>C
ENST00000437180.5:c.614-3T>C	ENSP00000409227.1:n.614-3T>C
ENST00000469087.1:n.150-3T>C
ENST00000482318.5:c.*204-3T>C	ENSP00000477067.1:n.*204-3T>C
NM_001001890.2:c.533-3T>C	NP_001001890.1:n.533-3T>C
NM_001122607.1:c.533-3T>C	NP_001116079.1:n.533-3T>C
NM_001754.4:c.614-3T>C , LRG_482t1:c.614-3T>C	NP_001745.2:n.614-3T>C
XM_005261068.3:c.578-3T>C	XP_005261125.1:n.578-3T>C
XM_005261069.3:c.613+24870T>C	XP_005261126.1:n.613+24870T>C
XM_011529766.1:c.614-3T>C	XP_011528068.1:n.614-3T>C
XM_011529767.1:c.575-3T>C	XP_011528069.1:n.575-3T>C
XM_011529768.1:c.574+24870T>C	XP_011528070.1:n.574+24870T>C
XM_011529770.1:c.614-3T>C	XP_011528072.1:n.614-3T>C
XR_937576.1:n.793-3T>C
XM_005261069.4:c.613+24870T>C	XP_005261126.1:n.613+24870T>C
XM_011529766.2:c.614-3T>C	XP_011528068.1:n.614-3T>C
XM_011529767.2:c.575-3T>C	XP_011528069.1:n.575-3T>C
XM_011529768.2:c.574+24870T>C	XP_011528070.1:n.574+24870T>C
XM_011529770.2:c.614-3T>C	XP_011528072.1:n.614-3T>C
XM_017028487.1:c.461-3T>C	XP_016883976.1:n.461-3T>C
XR_937576.2:n.840-3T>C
NM_001001890.3:c.533-3T>C	NP_001001890.1:n.533-3T>C
NM_001122607.2:c.533-3T>C	NP_001116079.1:n.533-3T>C
NM_001754.5:c.614-3T>C MANE Select	NP_001745.2:n.614-3T>C

Linked Data

Genomic Alleles

Transcript Alleles