Canonical Allele Identifier: CA115270
Gene: ERMAP HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42830851G>A
GRCh37 chr1:g.43296522G>A
Revel Score:
ENST00000372517 (MANE Select) 0.040
ENST00000372514 0.040
gnomAD v2:
1:43296522 G / A
gnomAD v3:
1:42830851 G / A
gnomAD v4:
chr1-42830851-G-A
Joint Max Group AF 0.00323093 (NFE)
Genomes Max Group AF 0.00274522 (NFE)
Exomes Max Group AF 0.0032425 (NFE)
ClinVar RCV:
RCV000001993
RCV000785148
ClinVar Variation:
1916
dbSNP:
56025238
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42830851G>A , CM000663.2:g.42830851G>A GRCh38
NC_000001.10:g.43296522G>A , CM000663.1:g.43296522G>A GRCh37
NC_000001.9:g.43069109G>A NCBI36
NG_008749.1:g.18747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372517.8:c.169G>A MANE Select ENSP00000361595.2:p.Gly57Arg
ENST00000487556.6:n.452-4187G>A
ENST00000642150.1:n.356G>A
ENST00000647120.1:n.248-4187G>A
ENST00000328249.3:c.-102G>A ENSP00000332439.3:n.-102G>A
ENST00000372514.7:c.169G>A ENSP00000361592.3:p.Gly57Arg
ENST00000372517.6:c.169G>A ENSP00000361595.2:p.Gly57Arg
ENST00000487556.5:n.247-4187G>A
NM_001017922.1:c.169G>A NP_001017922.1:p.Gly57Arg
NM_018538.3:c.169G>A NP_061008.2:p.Gly57Arg
XM_006710313.2:c.169G>A XP_006710376.1:p.Gly57Arg
XM_011540570.1:c.169G>A XP_011538872.1:p.Gly57Arg
XM_011540571.1:c.169G>A XP_011538873.1:p.Gly57Arg
XM_006710313.4:c.169G>A XP_006710376.1:p.Gly57Arg
XM_011540570.3:c.169G>A XP_011538872.1:p.Gly57Arg
XM_011540571.3:c.169G>A XP_011538873.1:p.Gly57Arg
NM_001017922.2:c.169G>A MANE Select NP_001017922.1:p.Gly57Arg
NM_018538.4:c.169G>A NP_061008.2:p.Gly57Arg
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