Canonical Allele Identifier: CA10374056
Gene: MAGEB18 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.26139977G>A
GRCh37 chrX:g.26158094G>A
Revel Score:
ENST00000325250 (MANE Select) 0.027
gnomAD v2:
X:26158094 G / A
gnomAD v3:
X:26139977 G / A
gnomAD v4:
chrX-26139977-G-A
Joint Max Group AF 0.00005334 (NFE)
Genomes Max Group AF 0.00003687 (NFE)
Exomes Max Group AF 0.00005176 (NFE)
ClinVar RCV:
RCV004223925
ClinVar Variation:
2384301
dbSNP:
199870876
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.26139977G>A , CM000685.2:g.26139977G>A GRCh38
NC_000023.10:g.26158094G>A , CM000685.1:g.26158094G>A GRCh37
NC_000023.9:g.26068015G>A NCBI36
NG_016370.1:g.6635G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325250.2:c.992G>A MANE Select ENSP00000314543.1:p.Arg331His
ENST00000325250.1:c.992G>A ENSP00000314543.1:p.Arg331His
NM_173699.3:c.992G>A NP_775970.1:p.Arg331His
NM_173699.4:c.992G>A MANE Select NP_775970.2:p.Arg331His
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