Canonical Allele Identifier: CA802736

Gene: ERMAP

Linked Data

• dbSNP Id: rs183863963
• ExAC: 1:43296703 G / A
• gnomAD v2: 1-43296703-G-A
• gnomAD v3: 1-42831032-G-A
• gnomAD v4: 1-42831032-G-A
• MyVariant Identifiers: chr1:g.43296703G>A (hg19) ; chr1:g.42831032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831032G>A , CM000663.2:g.42831032G>A	GRCh38
NC_000001.10:g.43296703G>A , CM000663.1:g.43296703G>A	GRCh37
NC_000001.9:g.43069290G>A	NCBI36
NG_008749.1:g.18928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.350G>A MANE Select	ENSP00000361595.2:p.Arg117His
ENST00000487556.6:n.452-4006G>A
ENST00000642150.1:n.537G>A
ENST00000647120.1:n.248-4006G>A
ENST00000328249.3:c.80G>A	ENSP00000332439.3:p.Arg27His
ENST00000372514.7:c.350G>A	ENSP00000361592.3:p.Arg117His
ENST00000372517.6:c.350G>A	ENSP00000361595.2:p.Arg117His
ENST00000487556.5:n.247-4006G>A
NM_001017922.1:c.350G>A	NP_001017922.1:p.Arg117His
NM_018538.3:c.350G>A	NP_061008.2:p.Arg117His
XM_006710313.2:c.350G>A	XP_006710376.1:p.Arg117His
XM_011540570.1:c.350G>A	XP_011538872.1:p.Arg117His
XM_011540571.1:c.350G>A	XP_011538873.1:p.Arg117His
XM_006710313.4:c.350G>A	XP_006710376.1:p.Arg117His
XM_011540570.3:c.350G>A	XP_011538872.1:p.Arg117His
XM_011540571.3:c.350G>A	XP_011538873.1:p.Arg117His
NM_001017922.2:c.350G>A MANE Select	NP_001017922.1:p.Arg117His
NM_018538.4:c.350G>A	NP_061008.2:p.Arg117His