Canonical Allele Identifier: CA10383507
Gene: XK HGNC NCBI
ClinVar RCV:
RCV003073077
ClinVar Variation:
2159928
dbSNP:
371386605
gnomAD v2:
X:37545285 T / A
gnomAD v3:
X:37686032 T / A
gnomAD v4:
chrX-37686032-T-A
Joint Max Group AF 0.0000394 (NFE)
Genomes Max Group AF 0.0000612 (NFE)
Exomes Max Group AF 0.0000347 (NFE)
MyVariant.info:
GRCh38 chrX:g.37686032T>A
GRCh37 chrX:g.37545285T>A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37686032T>A , CM000685.2:g.37686032T>A GRCh38
NC_000023.10:g.37545285T>A , CM000685.1:g.37545285T>A GRCh37
NC_000023.9:g.37430204T>A NCBI36
NG_007473.1:g.5153T>A
NG_007473.3:g.5153T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.71T>A MANE Select ENSP00000367879.3:p.Leu24Gln
ENST00000378616.3:c.71T>A ENSP00000367879.3:p.Leu24Gln
ENST00000465127.1:c.171+260032T>A ENSP00000417050.1:n.171+260032T>A
NM_021083.2:c.71T>A NP_066569.1:p.Leu24Gln
XM_011543978.1:c.71T>A XP_011542280.1:p.Leu24Gln
NM_021083.4:c.71T>A MANE Select NP_066569.1:p.Leu24Gln
XM_011543978.3:c.71T>A XP_011542280.1:p.Leu24Gln
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