Canonical Allele Identifier: CA10532718
Gene: MAGEC3 HGNC NCBI
COSMIC:
COSM1466088
COSM4002264
dbSNP:
176026
gnomAD v2:
X:140983127 G / A
gnomAD v3:
X:141895341 G / A
gnomAD v4:
chrX-141895341-G-A
Joint Max Group AF 0.92776134 (NFE)
Genomes Max Group AF 0.91820669 (NFE)
Exomes Max Group AF 0.92797761 (NFE)
MyVariant.info:
GRCh38 chrX:g.141895341G>A
GRCh37 chrX:g.140983127G>A
Revel Score:
ENST00000298296 (MANE Select) 0.015
ENST00000448920 0.015
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.141895341G>A , CM000685.2:g.141895341G>A GRCh38
NC_000023.10:g.140983127G>A , CM000685.1:g.140983127G>A GRCh37
NC_000023.9:g.140810793G>A NCBI36
NG_013272.1:g.62026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298296.1:c.982G>A MANE Select ENSP00000298296.1:p.Ala328Thr
ENST00000443323.2:c.-118-1090G>A ENSP00000438254.1:n.-118-1090G>A
ENST00000483584.5:n.222G>A
ENST00000544766.5:c.-306G>A ENSP00000440444.1:n.-306G>A
NM_138702.1:c.982G>A MANE Select NP_619647.1:p.Ala328Thr
NM_177456.2:c.-306G>A NP_803251.1:n.-306G>A
XM_011531267.1:c.-229G>A XP_011529569.1:n.-229G>A
XM_011531267.3:c.-229G>A XP_011529569.1:n.-229G>A
XM_017029265.2:c.-306G>A XP_016884754.1:n.-306G>A
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