Canonical Allele Identifier: CA412974024
Gene: XK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.37587065T>C (hg19) chrX:g.37727812T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727812T>C , CM000685.2:g.37727812T>C GRCh38
NC_000023.10:g.37587065T>C , CM000685.1:g.37587065T>C GRCh37
NC_000023.9:g.37472004T>C NCBI36
NG_007473.1:g.46953T>C
NG_007473.3:g.46933T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.685T>C MANE Select ENSP00000367879.3:p.Phe229Leu
ENST00000378616.3:c.685T>C ENSP00000367879.3:p.Phe229Leu
ENST00000465127.1:c.171+301812T>C ENSP00000417050.1:n.171+301812T>C
NM_021083.2:c.685T>C NP_066569.1:p.Phe229Leu
NM_021083.4:c.685T>C MANE Select NP_066569.1:p.Phe229Leu
Search 100 bp 5'
Search 100 bp 3'