Canonical Allele Identifier: CA412974403
Gene: XK HGNC NCBI

Linked Data

ClinVar Variation Id: 2429766
ClinVar RCV Id: RCV003127219

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727898G>A , CM000685.2:g.37727898G>A GRCh38
NC_000023.10:g.37587151G>A , CM000685.1:g.37587151G>A GRCh37
NC_000023.9:g.37472090G>A NCBI36
NG_007473.1:g.47039G>A
NG_007473.3:g.47019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.771G>A MANE Select ENSP00000367879.3:p.Trp257Ter
ENST00000378616.3:c.771G>A ENSP00000367879.3:p.Trp257Ter
ENST00000465127.1:c.171+301898G>A ENSP00000417050.1:n.171+301898G>A
NM_021083.2:c.771G>A NP_066569.1:p.Trp257Ter
NM_021083.4:c.771G>A MANE Select NP_066569.1:p.Trp257Ter