Canonical Allele Identifier: CA412872066

Gene: WAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.781G>A
ENST00000490627.2:n.185G>A
ENST00000698625.1:c.748G>A	ENSP00000513844.1:p.Val250Met
ENST00000698626.1:c.748G>A	ENSP00000513845.1:p.Val250Met
ENST00000698635.1:c.748G>A	ENSP00000513850.1:p.Val250Met
ENST00000376701.5:c.748G>A MANE Select	ENSP00000365891.4:p.Val250Met
ENST00000376701.4:c.748G>A	ENSP00000365891.4:p.Val250Met
ENST00000465982.5:n.648G>A
ENST00000483750.5:n.774G>A
ENST00000490627.1:n.168G>A
NM_000377.2:c.748G>A , LRG_125t1:c.748G>A	NP_000368.1:p.Val250Met
XM_011543977.1:c.748G>A	XP_011542279.1:p.Val250Met
XM_011543977.2:c.748G>A	XP_011542279.1:p.Val250Met
XM_017029786.1:c.748G>A	XP_016885275.1:p.Val250Met
NM_000377.3:c.748G>A MANE Select	NP_000368.1:p.Val250Met