Canonical Allele Identifier: CA412974073
Gene: XK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727824C>A , CM000685.2:g.37727824C>A GRCh38
NC_000023.10:g.37587077C>A , CM000685.1:g.37587077C>A GRCh37
NC_000023.9:g.37472016C>A NCBI36
NG_007473.1:g.46965C>A
NG_007473.3:g.46945C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.697C>A MANE Select ENSP00000367879.3:p.Leu233Met
ENST00000378616.3:c.697C>A ENSP00000367879.3:p.Leu233Met
ENST00000465127.1:c.171+301824C>A ENSP00000417050.1:n.171+301824C>A
NM_021083.2:c.697C>A NP_066569.1:p.Leu233Met
NM_021083.4:c.697C>A MANE Select NP_066569.1:p.Leu233Met