Canonical Allele Identifier: CA10508190
Gene: XIAP HGNC NCBI
ClinVar RCV:
RCV003051113
ClinVar Variation:
2142682
dbSNP:
147510195
gnomAD v2:
X:123040965 A / C
gnomAD v3:
X:123907115 A / C
gnomAD v4:
chrX-123907115-A-C
Joint Max Group AF 0.00013401 (AFR)
Genomes Max Group AF 0.00010553 (AFR)
Exomes Max Group AF 0.00009827 (AFR)
MyVariant.info:
GRCh38 chrX:g.123907115A>C
GRCh37 chrX:g.123040965A>C
Revel Score:
ENST00000434753 0.274
ENST00000371199 (MANE Select) 0.274
ENST00000355640 0.274
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.123907115A>C , CM000685.2:g.123907115A>C GRCh38
NC_000023.10:g.123040965A>C , CM000685.1:g.123040965A>C GRCh37
NC_000023.9:g.122868646A>C NCBI36
NG_007264.1:g.51918A>C , LRG_19:g.51918A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000422098.6:c.1428A>C ENSP00000405529.2:p.Glu476Asp
ENST00000698505.1:n.873A>C
ENST00000371199.8:c.1428A>C MANE Select ENSP00000360242.3:p.Glu476Asp
ENST00000355640.3:c.1428A>C ENSP00000347858.3:p.Glu476Asp
ENST00000371199.7:c.1428A>C ENSP00000360242.3:p.Glu476Asp
ENST00000434753.7:c.1428A>C ENSP00000395230.3:p.Glu476Asp
ENST00000468691.5:n.628A>C
NM_001167.3:c.1428A>C , LRG_19t1:c.1428A>C NP_001158.2:p.Glu476Asp
NM_001204401.1:c.1428A>C NP_001191330.1:p.Glu476Asp
NR_037916.1:n.678A>C
XM_006724754.2:c.1428A>C XP_006724817.1:p.Glu476Asp
XM_011531329.1:c.1428A>C XP_011529631.1:p.Glu476Asp
XM_011531329.2:c.1428A>C XP_011529631.1:p.Glu476Asp
NM_001167.4:c.1428A>C MANE Select NP_001158.2:p.Glu476Asp
NM_001204401.2:c.1428A>C NP_001191330.1:p.Glu476Asp
NM_001378590.1:c.1428A>C NP_001365519.1:p.Glu476Asp
NM_001378591.1:c.1428A>C NP_001365520.1:p.Glu476Asp
NM_001378592.1:c.1428A>C NP_001365521.1:p.Glu476Asp
NR_037916.2:n.792A>C
NR_165803.1:n.774A>C
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