Canonical Allele Identifier: CA412974031
Gene: XK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727813T>G , CM000685.2:g.37727813T>G GRCh38
NC_000023.10:g.37587066T>G , CM000685.1:g.37587066T>G GRCh37
NC_000023.9:g.37472005T>G NCBI36
NG_007473.1:g.46954T>G
NG_007473.3:g.46934T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378616.5:c.686T>G MANE Select ENSP00000367879.3:p.Phe229Cys
ENST00000378616.3:c.686T>G ENSP00000367879.3:p.Phe229Cys
ENST00000465127.1:c.171+301813T>G ENSP00000417050.1:n.171+301813T>G
NM_021083.2:c.686T>G NP_066569.1:p.Phe229Cys
NM_021083.4:c.686T>G MANE Select NP_066569.1:p.Phe229Cys