Canonical Allele Identifier: CA339950797

Gene: ERMAP

Linked Data

• dbSNP Id: rs1654717202
• gnomAD v4: 1-42831088-G-A
• MyVariant Identifiers: chr1:g.43296759G>A (hg19) ; chr1:g.42831088G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831088G>A , CM000663.2:g.42831088G>A	GRCh38
NC_000001.10:g.43296759G>A , CM000663.1:g.43296759G>A	GRCh37
NC_000001.9:g.43069346G>A	NCBI36
NG_008749.1:g.18984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.406G>A MANE Select	ENSP00000361595.2:p.Glu136Lys
ENST00000487556.6:n.452-3950G>A
ENST00000642150.1:n.593G>A
ENST00000647120.1:n.248-3950G>A
ENST00000328249.3:c.136G>A	ENSP00000332439.3:p.Glu46Lys
ENST00000372514.7:c.406G>A	ENSP00000361592.3:p.Glu136Lys
ENST00000372517.6:c.406G>A	ENSP00000361595.2:p.Glu136Lys
ENST00000487556.5:n.247-3950G>A
NM_001017922.1:c.406G>A	NP_001017922.1:p.Glu136Lys
NM_018538.3:c.406G>A	NP_061008.2:p.Glu136Lys
XM_006710313.2:c.406G>A	XP_006710376.1:p.Glu136Lys
XM_011540570.1:c.406G>A	XP_011538872.1:p.Glu136Lys
XM_011540571.1:c.406G>A	XP_011538873.1:p.Glu136Lys
XM_006710313.4:c.406G>A	XP_006710376.1:p.Glu136Lys
XM_011540570.3:c.406G>A	XP_011538872.1:p.Glu136Lys
XM_011540571.3:c.406G>A	XP_011538873.1:p.Glu136Lys
NM_001017922.2:c.406G>A MANE Select	NP_001017922.1:p.Glu136Lys
NM_018538.4:c.406G>A	NP_061008.2:p.Glu136Lys