Canonical Allele Identifier: CA515942728
Gene: XK HGNC NCBI

Linked Data

dbSNP Id: rs1928007895
gnomAD v3: X-37727817-C-A
gnomAD v4: X-37727817-C-A
MyVariant Identifiers: chrX:g.37587070C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727817C>A , CM000685.2:g.37727817C>A GRCh38
NC_000023.10:g.37587070C>A , CM000685.1:g.37587070C>A GRCh37
NC_000023.9:g.37472009C>A NCBI36
NG_007473.1:g.46958C>A
NG_007473.3:g.46938C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.690C>A MANE Select ENSP00000367879.3:p.Thr230=
ENST00000378616.3:c.690C>A ENSP00000367879.3:p.Thr230=
ENST00000465127.1:c.171+301817C>A ENSP00000417050.1:n.171+301817C>A
NM_021083.2:c.690C>A NP_066569.1:p.Thr230=
NM_021083.4:c.690C>A MANE Select NP_066569.1:p.Thr230=
Search 100 bp 5'
Search 100 bp 3'