Canonical Allele Identifier: CA412974019
Gene: XK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.37587063T>C (hg19) chrX:g.37727810T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727810T>C , CM000685.2:g.37727810T>C GRCh38
NC_000023.10:g.37587063T>C , CM000685.1:g.37587063T>C GRCh37
NC_000023.9:g.37472002T>C NCBI36
NG_007473.1:g.46951T>C
NG_007473.3:g.46931T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.683T>C MANE Select ENSP00000367879.3:p.Leu228Pro
ENST00000378616.3:c.683T>C ENSP00000367879.3:p.Leu228Pro
ENST00000465127.1:c.171+301810T>C ENSP00000417050.1:n.171+301810T>C
NM_021083.2:c.683T>C NP_066569.1:p.Leu228Pro
NM_021083.4:c.683T>C MANE Select NP_066569.1:p.Leu228Pro
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