Canonical Allele Identifier: CA412974467

Gene: XK

Linked Data

• MyVariant Identifiers: chrX:g.37587179A>T (hg19) ; chrX:g.37727926A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37727926A>T , CM000685.2:g.37727926A>T	GRCh38
NC_000023.10:g.37587179A>T , CM000685.1:g.37587179A>T	GRCh37
NC_000023.9:g.37472118A>T	NCBI36
NG_007473.1:g.47067A>T
NG_007473.3:g.47047A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378616.5:c.799A>T MANE Select	ENSP00000367879.3:p.Ile267Leu
ENST00000378616.3:c.799A>T	ENSP00000367879.3:p.Ile267Leu
ENST00000465127.1:c.171+301926A>T	ENSP00000417050.1:n.171+301926A>T
NM_021083.2:c.799A>T	NP_066569.1:p.Ile267Leu
NM_021083.4:c.799A>T MANE Select	NP_066569.1:p.Ile267Leu