Canonical Allele Identifier: CA412974690

Gene: XK

Linked Data

• MyVariant Identifiers: chrX:g.37587278C>A (hg19) ; chrX:g.37728025C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37728025C>A , CM000685.2:g.37728025C>A	GRCh38
NC_000023.10:g.37587278C>A , CM000685.1:g.37587278C>A	GRCh37
NC_000023.9:g.37472217C>A	NCBI36
NG_007473.1:g.47166C>A
NG_007473.3:g.47146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378616.5:c.898C>A MANE Select	ENSP00000367879.3:p.Leu300Met
ENST00000378616.3:c.898C>A	ENSP00000367879.3:p.Leu300Met
ENST00000465127.1:c.171+302025C>A	ENSP00000417050.1:n.171+302025C>A
NM_021083.2:c.898C>A	NP_066569.1:p.Leu300Met
NM_021083.4:c.898C>A MANE Select	NP_066569.1:p.Leu300Met