Canonical Allele Identifier: CA412974028
Gene: XK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.37587066T>A (hg19) chrX:g.37727813T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727813T>A , CM000685.2:g.37727813T>A GRCh38
NC_000023.10:g.37587066T>A , CM000685.1:g.37587066T>A GRCh37
NC_000023.9:g.37472005T>A NCBI36
NG_007473.1:g.46954T>A
NG_007473.3:g.46934T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.686T>A MANE Select ENSP00000367879.3:p.Phe229Tyr
ENST00000378616.3:c.686T>A ENSP00000367879.3:p.Phe229Tyr
ENST00000465127.1:c.171+301813T>A ENSP00000417050.1:n.171+301813T>A
NM_021083.2:c.686T>A NP_066569.1:p.Phe229Tyr
NM_021083.4:c.686T>A MANE Select NP_066569.1:p.Phe229Tyr
Search 100 bp 5'
Search 100 bp 3'