Canonical Allele Identifier: CA254890
Gene: XK HGNC NCBI

Linked Data

ClinVar Variation Id: 9770
ClinVar RCV Id: RCV000010424
dbSNP Id: rs104894953

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37728068G>A , CM000685.2:g.37728068G>A GRCh38
NC_000023.10:g.37587321G>A , CM000685.1:g.37587321G>A GRCh37
NC_000023.9:g.37472260G>A NCBI36
NG_007473.1:g.47209G>A
NG_007473.3:g.47189G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378616.5:c.941G>A MANE Select ENSP00000367879.3:p.Trp314Ter
ENST00000378616.3:c.941G>A ENSP00000367879.3:p.Trp314Ter
ENST00000465127.1:c.171+302068G>A ENSP00000417050.1:n.171+302068G>A
NM_021083.2:c.941G>A NP_066569.1:p.Trp314Ter
NM_021083.4:c.941G>A MANE Select NP_066569.1:p.Trp314Ter