Canonical Allele Identifier: CA10403975

Gene: WAS

Linked Data

• dbSNP Id: rs781889846
• ExAC: X:48546419 C / A
• gnomAD v2: X-48546419-C-A
• gnomAD v3: X-48688030-C-A
• gnomAD v4: X-48688030-C-A
• MyVariant Identifiers: chrX:g.48546419C>A (hg19) ; chrX:g.48688030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688030C>A , CM000685.2:g.48688030C>A	GRCh38
NC_000023.10:g.48546419C>A , CM000685.1:g.48546419C>A	GRCh37
NC_000023.9:g.48431363C>A	NCBI36
NG_007877.1:g.9234C>A , LRG_125:g.9234C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.768-24C>A
ENST00000490627.2:n.172-24C>A
ENST00000698625.1:c.735-24C>A	ENSP00000513844.1:n.735-24C>A
ENST00000698626.1:c.735-24C>A	ENSP00000513845.1:n.735-24C>A
ENST00000698635.1:c.735-24C>A	ENSP00000513850.1:n.735-24C>A
ENST00000376701.5:c.735-24C>A MANE Select	ENSP00000365891.4:n.735-24C>A
ENST00000376701.4:c.735-24C>A	ENSP00000365891.4:n.735-24C>A
ENST00000465982.5:n.635-24C>A
ENST00000483750.5:n.761-24C>A
ENST00000490627.1:n.155-24C>A
NM_000377.2:c.735-24C>A , LRG_125t1:c.735-24C>A	NP_000368.1:n.735-24C>A
XM_011543977.1:c.735-24C>A	XP_011542279.1:n.735-24C>A
XM_011543977.2:c.735-24C>A	XP_011542279.1:n.735-24C>A
XM_017029786.1:c.735-24C>A	XP_016885275.1:n.735-24C>A
NM_000377.3:c.735-24C>A MANE Select	NP_000368.1:n.735-24C>A