Canonical Allele Identifier: CA10403979

Gene: WAS

Linked Data

• dbSNP Id: rs782488331
• ExAC: X:48546456 G / C
• gnomAD v2: X-48546456-G-C
• gnomAD v4: X-48688067-G-C
• MyVariant Identifiers: chrX:g.48546456G>C (hg19) ; chrX:g.48688067G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688067G>C , CM000685.2:g.48688067G>C	GRCh38
NC_000023.10:g.48546456G>C , CM000685.1:g.48546456G>C	GRCh37
NC_000023.9:g.48431400G>C	NCBI36
NG_007877.1:g.9271G>C , LRG_125:g.9271G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.781G>C
ENST00000490627.2:n.185G>C
ENST00000698625.1:c.748G>C	ENSP00000513844.1:p.Val250Leu
ENST00000698626.1:c.748G>C	ENSP00000513845.1:p.Val250Leu
ENST00000698635.1:c.748G>C	ENSP00000513850.1:p.Val250Leu
ENST00000376701.5:c.748G>C MANE Select	ENSP00000365891.4:p.Val250Leu
ENST00000376701.4:c.748G>C	ENSP00000365891.4:p.Val250Leu
ENST00000465982.5:n.648G>C
ENST00000483750.5:n.774G>C
ENST00000490627.1:n.168G>C
NM_000377.2:c.748G>C , LRG_125t1:c.748G>C	NP_000368.1:p.Val250Leu
XM_011543977.1:c.748G>C	XP_011542279.1:p.Val250Leu
XM_011543977.2:c.748G>C	XP_011542279.1:p.Val250Leu
XM_017029786.1:c.748G>C	XP_016885275.1:p.Val250Leu
NM_000377.3:c.748G>C MANE Select	NP_000368.1:p.Val250Leu