Canonical Allele Identifier: CA412974161

Gene: XK

Linked Data

• MyVariant Identifiers: chrX:g.37587099T>A (hg19) ; chrX:g.37727846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37727846T>A , CM000685.2:g.37727846T>A	GRCh38
NC_000023.10:g.37587099T>A , CM000685.1:g.37587099T>A	GRCh37
NC_000023.9:g.37472038T>A	NCBI36
NG_007473.1:g.46987T>A
NG_007473.3:g.46967T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378616.5:c.719T>A MANE Select	ENSP00000367879.3:p.Ile240Lys
ENST00000378616.3:c.719T>A	ENSP00000367879.3:p.Ile240Lys
ENST00000465127.1:c.171+301846T>A	ENSP00000417050.1:n.171+301846T>A
NM_021083.2:c.719T>A	NP_066569.1:p.Ile240Lys
NM_021083.4:c.719T>A MANE Select	NP_066569.1:p.Ile240Lys