Canonical Allele Identifier: CA412974015

Gene: XK

Linked Data

• MyVariant Identifiers: chrX:g.37587062C>T (hg19) ; chrX:g.37727809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37727809C>T , CM000685.2:g.37727809C>T	GRCh38
NC_000023.10:g.37587062C>T , CM000685.1:g.37587062C>T	GRCh37
NC_000023.9:g.37472001C>T	NCBI36
NG_007473.1:g.46950C>T
NG_007473.3:g.46930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378616.5:c.682C>T MANE Select	ENSP00000367879.3:p.Leu228Phe
ENST00000378616.3:c.682C>T	ENSP00000367879.3:p.Leu228Phe
ENST00000465127.1:c.171+301809C>T	ENSP00000417050.1:n.171+301809C>T
NM_021083.2:c.682C>T	NP_066569.1:p.Leu228Phe
NM_021083.4:c.682C>T MANE Select	NP_066569.1:p.Leu228Phe