Canonical Allele Identifier: CA515942744

Gene: XK

Linked Data

• MyVariant Identifiers: chrX:g.37587079G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37727826G>T , CM000685.2:g.37727826G>T	GRCh38
NC_000023.10:g.37587079G>T , CM000685.1:g.37587079G>T	GRCh37
NC_000023.9:g.37472018G>T	NCBI36
NG_007473.1:g.46967G>T
NG_007473.3:g.46947G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378616.5:c.699G>T MANE Select	ENSP00000367879.3:p.Leu233=
ENST00000378616.3:c.699G>T	ENSP00000367879.3:p.Leu233=
ENST00000465127.1:c.171+301826G>T	ENSP00000417050.1:n.171+301826G>T
NM_021083.2:c.699G>T	NP_066569.1:p.Leu233=
NM_021083.4:c.699G>T MANE Select	NP_066569.1:p.Leu233=