Canonical Allele Identifier: CA412974057
Gene: XK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.37587072C>G (hg19) chrX:g.37727819C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727819C>G , CM000685.2:g.37727819C>G GRCh38
NC_000023.10:g.37587072C>G , CM000685.1:g.37587072C>G GRCh37
NC_000023.9:g.37472011C>G NCBI36
NG_007473.1:g.46960C>G
NG_007473.3:g.46940C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378616.5:c.692C>G MANE Select ENSP00000367879.3:p.Ser231Cys
ENST00000378616.3:c.692C>G ENSP00000367879.3:p.Ser231Cys
ENST00000465127.1:c.171+301819C>G ENSP00000417050.1:n.171+301819C>G
NM_021083.2:c.692C>G NP_066569.1:p.Ser231Cys
NM_021083.4:c.692C>G MANE Select NP_066569.1:p.Ser231Cys
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