Canonical Allele Identifier: CA339949253

Gene: ERMAP

Linked Data

• dbSNP Id: rs56025238
• gnomAD v2: 1-43296522-G-C
• MyVariant Identifiers: chr1:g.43296522G>C (hg19) ; chr1:g.42830851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42830851G>C , CM000663.2:g.42830851G>C	GRCh38
NC_000001.10:g.43296522G>C , CM000663.1:g.43296522G>C	GRCh37
NC_000001.9:g.43069109G>C	NCBI36
NG_008749.1:g.18747G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.169G>C MANE Select	ENSP00000361595.2:p.Gly57Arg
ENST00000487556.6:n.452-4187G>C
ENST00000642150.1:n.356G>C
ENST00000647120.1:n.248-4187G>C
ENST00000328249.3:c.-102G>C	ENSP00000332439.3:n.-102G>C
ENST00000372514.7:c.169G>C	ENSP00000361592.3:p.Gly57Arg
ENST00000372517.6:c.169G>C	ENSP00000361595.2:p.Gly57Arg
ENST00000487556.5:n.247-4187G>C
NM_001017922.1:c.169G>C	NP_001017922.1:p.Gly57Arg
NM_018538.3:c.169G>C	NP_061008.2:p.Gly57Arg
XM_006710313.2:c.169G>C	XP_006710376.1:p.Gly57Arg
XM_011540570.1:c.169G>C	XP_011538872.1:p.Gly57Arg
XM_011540571.1:c.169G>C	XP_011538873.1:p.Gly57Arg
XM_006710313.4:c.169G>C	XP_006710376.1:p.Gly57Arg
XM_011540570.3:c.169G>C	XP_011538872.1:p.Gly57Arg
XM_011540571.3:c.169G>C	XP_011538873.1:p.Gly57Arg
NM_001017922.2:c.169G>C MANE Select	NP_001017922.1:p.Gly57Arg
NM_018538.4:c.169G>C	NP_061008.2:p.Gly57Arg