Canonical Allele Identifier: CA412974062

Gene: XK

Linked Data

• MyVariant Identifiers: chrX:g.37587074G>T (hg19) ; chrX:g.37727821G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37727821G>T , CM000685.2:g.37727821G>T	GRCh38
NC_000023.10:g.37587074G>T , CM000685.1:g.37587074G>T	GRCh37
NC_000023.9:g.37472013G>T	NCBI36
NG_007473.1:g.46962G>T
NG_007473.3:g.46942G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378616.5:c.694G>T MANE Select	ENSP00000367879.3:p.Val232Phe
ENST00000378616.3:c.694G>T	ENSP00000367879.3:p.Val232Phe
ENST00000465127.1:c.171+301821G>T	ENSP00000417050.1:n.171+301821G>T
NM_021083.2:c.694G>T	NP_066569.1:p.Val232Phe
NM_021083.4:c.694G>T MANE Select	NP_066569.1:p.Val232Phe