Canonical Allele Identifier: CA339950663

Gene: ERMAP

Linked Data

• gnomAD v4: 1-42831071-T-C
• MyVariant Identifiers: chr1:g.43296742T>C (hg19) ; chr1:g.42831071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831071T>C , CM000663.2:g.42831071T>C	GRCh38
NC_000001.10:g.43296742T>C , CM000663.1:g.43296742T>C	GRCh37
NC_000001.9:g.43069329T>C	NCBI36
NG_008749.1:g.18967T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.389T>C MANE Select	ENSP00000361595.2:p.Val130Ala
ENST00000487556.6:n.452-3967T>C
ENST00000642150.1:n.576T>C
ENST00000647120.1:n.248-3967T>C
ENST00000328249.3:c.119T>C	ENSP00000332439.3:p.Val40Ala
ENST00000372514.7:c.389T>C	ENSP00000361592.3:p.Val130Ala
ENST00000372517.6:c.389T>C	ENSP00000361595.2:p.Val130Ala
ENST00000487556.5:n.247-3967T>C
NM_001017922.1:c.389T>C	NP_001017922.1:p.Val130Ala
NM_018538.3:c.389T>C	NP_061008.2:p.Val130Ala
XM_006710313.2:c.389T>C	XP_006710376.1:p.Val130Ala
XM_011540570.1:c.389T>C	XP_011538872.1:p.Val130Ala
XM_011540571.1:c.389T>C	XP_011538873.1:p.Val130Ala
XM_006710313.4:c.389T>C	XP_006710376.1:p.Val130Ala
XM_011540570.3:c.389T>C	XP_011538872.1:p.Val130Ala
XM_011540571.3:c.389T>C	XP_011538873.1:p.Val130Ala
NM_001017922.2:c.389T>C MANE Select	NP_001017922.1:p.Val130Ala
NM_018538.4:c.389T>C	NP_061008.2:p.Val130Ala