Canonical Allele Identifier: CA412974012
Gene: XK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.37587062C>A (hg19) chrX:g.37727809C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727809C>A , CM000685.2:g.37727809C>A GRCh38
NC_000023.10:g.37587062C>A , CM000685.1:g.37587062C>A GRCh37
NC_000023.9:g.37472001C>A NCBI36
NG_007473.1:g.46950C>A
NG_007473.3:g.46930C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.682C>A MANE Select ENSP00000367879.3:p.Leu228Ile
ENST00000378616.3:c.682C>A ENSP00000367879.3:p.Leu228Ile
ENST00000465127.1:c.171+301809C>A ENSP00000417050.1:n.171+301809C>A
NM_021083.2:c.682C>A NP_066569.1:p.Leu228Ile
NM_021083.4:c.682C>A MANE Select NP_066569.1:p.Leu228Ile
Search 100 bp 5'
Search 100 bp 3'