Canonical Allele Identifier: CA21260419

Gene: ERMAP

Linked Data

• dbSNP Id: rs1054125822
• gnomAD v2: 1-43296731-T-G
• gnomAD v4: 1-42831060-T-G
• MyVariant Identifiers: chr1:g.43296731T>G (hg19) ; chr1:g.42831060T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831060T>G , CM000663.2:g.42831060T>G	GRCh38
NC_000001.10:g.43296731T>G , CM000663.1:g.43296731T>G	GRCh37
NC_000001.9:g.43069318T>G	NCBI36
NG_008749.1:g.18956T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.378T>G MANE Select	ENSP00000361595.2:p.Cys126Trp
ENST00000487556.6:n.452-3978T>G
ENST00000642150.1:n.565T>G
ENST00000647120.1:n.248-3978T>G
ENST00000328249.3:c.108T>G	ENSP00000332439.3:p.Cys36Trp
ENST00000372514.7:c.378T>G	ENSP00000361592.3:p.Cys126Trp
ENST00000372517.6:c.378T>G	ENSP00000361595.2:p.Cys126Trp
ENST00000487556.5:n.247-3978T>G
NM_001017922.1:c.378T>G	NP_001017922.1:p.Cys126Trp
NM_018538.3:c.378T>G	NP_061008.2:p.Cys126Trp
XM_006710313.2:c.378T>G	XP_006710376.1:p.Cys126Trp
XM_011540570.1:c.378T>G	XP_011538872.1:p.Cys126Trp
XM_011540571.1:c.378T>G	XP_011538873.1:p.Cys126Trp
XM_006710313.4:c.378T>G	XP_006710376.1:p.Cys126Trp
XM_011540570.3:c.378T>G	XP_011538872.1:p.Cys126Trp
XM_011540571.3:c.378T>G	XP_011538873.1:p.Cys126Trp
NM_001017922.2:c.378T>G MANE Select	NP_001017922.1:p.Cys126Trp
NM_018538.4:c.378T>G	NP_061008.2:p.Cys126Trp