Canonical Allele Identifier: CA417542843

Gene: ERMAP

Linked Data

• dbSNP Id: rs1220676922
• gnomAD v2: 1-43296560-A-C
• gnomAD v3: 1-42830889-A-C
• gnomAD v4: 1-42830889-A-C
• MyVariant Identifiers: chr1:g.43296560A>C (hg19) ; chr1:g.42830889A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42830889A>C , CM000663.2:g.42830889A>C	GRCh38
NC_000001.10:g.43296560A>C , CM000663.1:g.43296560A>C	GRCh37
NC_000001.9:g.43069147A>C	NCBI36
NG_008749.1:g.18785A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.207A>C MANE Select	ENSP00000361595.2:p.Pro69=
ENST00000487556.6:n.452-4149A>C
ENST00000642150.1:n.394A>C
ENST00000647120.1:n.248-4149A>C
ENST00000328249.3:c.-64A>C	ENSP00000332439.3:n.-64A>C
ENST00000372514.7:c.207A>C	ENSP00000361592.3:p.Pro69=
ENST00000372517.6:c.207A>C	ENSP00000361595.2:p.Pro69=
ENST00000487556.5:n.247-4149A>C
NM_001017922.1:c.207A>C	NP_001017922.1:p.Pro69=
NM_018538.3:c.207A>C	NP_061008.2:p.Pro69=
XM_006710313.2:c.207A>C	XP_006710376.1:p.Pro69=
XM_011540570.1:c.207A>C	XP_011538872.1:p.Pro69=
XM_011540571.1:c.207A>C	XP_011538873.1:p.Pro69=
XM_006710313.4:c.207A>C	XP_006710376.1:p.Pro69=
XM_011540570.3:c.207A>C	XP_011538872.1:p.Pro69=
XM_011540571.3:c.207A>C	XP_011538873.1:p.Pro69=
NM_001017922.2:c.207A>C MANE Select	NP_001017922.1:p.Pro69=
NM_018538.4:c.207A>C	NP_061008.2:p.Pro69=