Canonical Allele Identifier: CA412974693

Gene: XK

Linked Data

• MyVariant Identifiers: chrX:g.37587279T>C (hg19) ; chrX:g.37728026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37728026T>C , CM000685.2:g.37728026T>C	GRCh38
NC_000023.10:g.37587279T>C , CM000685.1:g.37587279T>C	GRCh37
NC_000023.9:g.37472218T>C	NCBI36
NG_007473.1:g.47167T>C
NG_007473.3:g.47147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378616.5:c.899T>C MANE Select	ENSP00000367879.3:p.Leu300Pro
ENST00000378616.3:c.899T>C	ENSP00000367879.3:p.Leu300Pro
ENST00000465127.1:c.171+302026T>C	ENSP00000417050.1:n.171+302026T>C
NM_021083.2:c.899T>C	NP_066569.1:p.Leu300Pro
NM_021083.4:c.899T>C MANE Select	NP_066569.1:p.Leu300Pro