Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50904002C>G , CM000682.2:g.50904002C>G	GRCh38
NC_000020.10:g.49520539C>G , CM000682.1:g.49520539C>G	GRCh37
NC_000020.9:g.48953946C>G	NCBI36
NG_034200.1:g.31989G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001282531.3:c.-5-1G>C MANE Select	NP_001269460.1:n.-5-1G>C
ENST00000621696.5:c.-5-1G>C MANE Select	ENSP00000483881.1:n.-5-1G>C
NM_001282531.1:c.-5-1G>C	NP_001269460.1:n.-5-1G>C
NM_001282531.2:c.-5-1G>C	NP_001269460.1:n.-5-1G>C
NM_001282532.1:c.-5-1G>C	NP_001269461.1:n.-5-1G>C
NM_001282532.2:c.-5-1G>C	NP_001269461.1:n.-5-1G>C
NM_001347511.1:c.-5-1G>C	NP_001334440.1:n.-5-1G>C
NM_001347511.2:c.-5-1G>C	NP_001334440.1:n.-5-1G>C
NM_015339.3:c.-5-1G>C	NP_056154.1:n.-5-1G>C
NM_015339.4:c.-5-1G>C	NP_056154.1:n.-5-1G>C
NM_015339.5:c.-5-1G>C	NP_056154.1:n.-5-1G>C
NM_181442.2:c.-5-1G>C	NP_852107.1:n.-5-1G>C
NM_181442.3:c.-5-1G>C	NP_852107.1:n.-5-1G>C
NM_181442.4:c.-5-1G>C	NP_852107.1:n.-5-1G>C
ENST00000349014.7:c.-5-1G>C	ENSP00000342905.3:n.-5-1G>C
ENST00000349014.8:c.-5-1G>C	ENSP00000342905.3:n.-5-1G>C
ENST00000371602.8:c.-6G>C	ENSP00000360662.2:n.-6G>C
ENST00000371602.9:c.-6G>C	ENSP00000360662.2:n.-6G>C
ENST00000396029.7:c.-5-1G>C	ENSP00000379346.3:n.-5-1G>C
ENST00000396029.8:c.-5-1G>C	ENSP00000379346.3:n.-5-1G>C
ENST00000396032.7:c.-5-1G>C	ENSP00000379349.2:n.-5-1G>C
ENST00000396032.8:c.-5-1G>C	ENSP00000379349.2:n.-5-1G>C
ENST00000534467.1:c.-5-1G>C	ENSP00000436181.1:n.-5-1G>C
ENST00000621696.4:c.-5-1G>C	ENSP00000483881.1:n.-5-1G>C
ENST00000642364.1:n.86-1893G>C
ENST00000644386.1:c.-5-1G>C	ENSP00000493755.1:n.-5-1G>C
ENST00000645081.1:c.-576-1893G>C	ENSP00000495540.1:n.-576-1893G>C
ENST00000673732.1:c.212-1G>C	ENSP00000501294.1:n.212-1G>C
XM_011528747.1:c.-5-1G>C	XP_011527049.1:n.-5-1G>C
XM_011528747.2:c.-5-1G>C	XP_011527049.1:n.-5-1G>C
XM_011528748.1:c.23-1G>C	XP_011527050.1:n.23-1G>C
XM_011528748.2:c.23-1G>C	XP_011527050.1:n.23-1G>C
XM_017027758.1:c.-5-1G>C	XP_016883247.1:n.-5-1G>C
XM_017027759.1:c.-5-1G>C	XP_016883248.1:n.-5-1G>C