Canonical Allele Identifier: CA412974133

Gene: XK

Linked Data

• MyVariant Identifiers: chrX:g.37587092G>C (hg19) ; chrX:g.37727839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37727839G>C , CM000685.2:g.37727839G>C	GRCh38
NC_000023.10:g.37587092G>C , CM000685.1:g.37587092G>C	GRCh37
NC_000023.9:g.37472031G>C	NCBI36
NG_007473.1:g.46980G>C
NG_007473.3:g.46960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378616.5:c.712G>C MANE Select	ENSP00000367879.3:p.Val238Leu
ENST00000378616.3:c.712G>C	ENSP00000367879.3:p.Val238Leu
ENST00000465127.1:c.171+301839G>C	ENSP00000417050.1:n.171+301839G>C
NM_021083.2:c.712G>C	NP_066569.1:p.Val238Leu
NM_021083.4:c.712G>C MANE Select	NP_066569.1:p.Val238Leu