Canonical Allele Identifier: CA412974065
Gene: XK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.37587074G>C (hg19) chrX:g.37727821G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727821G>C , CM000685.2:g.37727821G>C GRCh38
NC_000023.10:g.37587074G>C , CM000685.1:g.37587074G>C GRCh37
NC_000023.9:g.37472013G>C NCBI36
NG_007473.1:g.46962G>C
NG_007473.3:g.46942G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.694G>C MANE Select ENSP00000367879.3:p.Val232Leu
ENST00000378616.3:c.694G>C ENSP00000367879.3:p.Val232Leu
ENST00000465127.1:c.171+301821G>C ENSP00000417050.1:n.171+301821G>C
NM_021083.2:c.694G>C NP_066569.1:p.Val232Leu
NM_021083.4:c.694G>C MANE Select NP_066569.1:p.Val232Leu
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