Canonical Allele Identifier: CA412872050

Gene: WAS

Linked Data

• MyVariant Identifiers: chrX:g.48546450A>C (hg19) ; chrX:g.48688061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688061A>C , CM000685.2:g.48688061A>C	GRCh38
NC_000023.10:g.48546450A>C , CM000685.1:g.48546450A>C	GRCh37
NC_000023.9:g.48431394A>C	NCBI36
NG_007877.1:g.9265A>C , LRG_125:g.9265A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.775A>C
ENST00000490627.2:n.179A>C
ENST00000698625.1:c.742A>C	ENSP00000513844.1:p.Ser248Arg
ENST00000698626.1:c.742A>C	ENSP00000513845.1:p.Ser248Arg
ENST00000698635.1:c.742A>C	ENSP00000513850.1:p.Ser248Arg
ENST00000376701.5:c.742A>C MANE Select	ENSP00000365891.4:p.Ser248Arg
ENST00000376701.4:c.742A>C	ENSP00000365891.4:p.Ser248Arg
ENST00000465982.5:n.642A>C
ENST00000483750.5:n.768A>C
ENST00000490627.1:n.162A>C
NM_000377.2:c.742A>C , LRG_125t1:c.742A>C	NP_000368.1:p.Ser248Arg
XM_011543977.1:c.742A>C	XP_011542279.1:p.Ser248Arg
XM_011543977.2:c.742A>C	XP_011542279.1:p.Ser248Arg
XM_017029786.1:c.742A>C	XP_016885275.1:p.Ser248Arg
NM_000377.3:c.742A>C MANE Select	NP_000368.1:p.Ser248Arg