Canonical Allele Identifier: CA412974050
Gene: XK HGNC NCBI

Linked Data

gnomAD v4: X-37727818-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727818T>A , CM000685.2:g.37727818T>A GRCh38
NC_000023.10:g.37587071T>A , CM000685.1:g.37587071T>A GRCh37
NC_000023.9:g.37472010T>A NCBI36
NG_007473.1:g.46959T>A
NG_007473.3:g.46939T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378616.5:c.691T>A MANE Select ENSP00000367879.3:p.Ser231Thr
ENST00000378616.3:c.691T>A ENSP00000367879.3:p.Ser231Thr
ENST00000465127.1:c.171+301818T>A ENSP00000417050.1:n.171+301818T>A
NM_021083.2:c.691T>A NP_066569.1:p.Ser231Thr
NM_021083.4:c.691T>A MANE Select NP_066569.1:p.Ser231Thr