Canonical Allele Identifier: CA412974010
Gene: XK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727807T>A , CM000685.2:g.37727807T>A GRCh38
NC_000023.10:g.37587060T>A , CM000685.1:g.37587060T>A GRCh37
NC_000023.9:g.37471999T>A NCBI36
NG_007473.1:g.46948T>A
NG_007473.3:g.46928T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.680T>A MANE Select ENSP00000367879.3:p.Val227Asp
ENST00000378616.3:c.680T>A ENSP00000367879.3:p.Val227Asp
ENST00000465127.1:c.171+301807T>A ENSP00000417050.1:n.171+301807T>A
NM_021083.2:c.680T>A NP_066569.1:p.Val227Asp
NM_021083.4:c.680T>A MANE Select NP_066569.1:p.Val227Asp