Canonical Allele Identifier: CA339950623

Gene: ERMAP

Linked Data

• dbSNP Id: rs1164510398
• gnomAD v2: 1-43296738-C-T
• gnomAD v4: 1-42831067-C-T
• MyVariant Identifiers: chr1:g.43296738C>T (hg19) ; chr1:g.42831067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831067C>T , CM000663.2:g.42831067C>T	GRCh38
NC_000001.10:g.43296738C>T , CM000663.1:g.43296738C>T	GRCh37
NC_000001.9:g.43069325C>T	NCBI36
NG_008749.1:g.18963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.385C>T MANE Select	ENSP00000361595.2:p.Gln129Ter
ENST00000487556.6:n.452-3971C>T
ENST00000642150.1:n.572C>T
ENST00000647120.1:n.248-3971C>T
ENST00000328249.3:c.115C>T	ENSP00000332439.3:p.Gln39Ter
ENST00000372514.7:c.385C>T	ENSP00000361592.3:p.Gln129Ter
ENST00000372517.6:c.385C>T	ENSP00000361595.2:p.Gln129Ter
ENST00000487556.5:n.247-3971C>T
NM_001017922.1:c.385C>T	NP_001017922.1:p.Gln129Ter
NM_018538.3:c.385C>T	NP_061008.2:p.Gln129Ter
XM_006710313.2:c.385C>T	XP_006710376.1:p.Gln129Ter
XM_011540570.1:c.385C>T	XP_011538872.1:p.Gln129Ter
XM_011540571.1:c.385C>T	XP_011538873.1:p.Gln129Ter
XM_006710313.4:c.385C>T	XP_006710376.1:p.Gln129Ter
XM_011540570.3:c.385C>T	XP_011538872.1:p.Gln129Ter
XM_011540571.3:c.385C>T	XP_011538873.1:p.Gln129Ter
NM_001017922.2:c.385C>T MANE Select	NP_001017922.1:p.Gln129Ter
NM_018538.4:c.385C>T	NP_061008.2:p.Gln129Ter