Canonical Allele Identifier: CA641511319

Gene: WAS

Linked Data

• dbSNP Id: rs1557006967
• gnomAD v2: X-48546413-G-T
• gnomAD v4: X-48688024-G-T
• MyVariant Identifiers: chrX:g.48546413G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688024G>T , CM000685.2:g.48688024G>T	GRCh38
NC_000023.10:g.48546413G>T , CM000685.1:g.48546413G>T	GRCh37
NC_000023.9:g.48431357G>T	NCBI36
NG_007877.1:g.9228G>T , LRG_125:g.9228G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.768-30G>T
ENST00000490627.2:n.172-30G>T
ENST00000698625.1:c.735-30G>T	ENSP00000513844.1:n.735-30G>T
ENST00000698626.1:c.735-30G>T	ENSP00000513845.1:n.735-30G>T
ENST00000698635.1:c.735-30G>T	ENSP00000513850.1:n.735-30G>T
ENST00000376701.5:c.735-30G>T MANE Select	ENSP00000365891.4:n.735-30G>T
ENST00000376701.4:c.735-30G>T	ENSP00000365891.4:n.735-30G>T
ENST00000465982.5:n.635-30G>T
ENST00000483750.5:n.761-30G>T
ENST00000490627.1:n.155-30G>T
NM_000377.2:c.735-30G>T , LRG_125t1:c.735-30G>T	NP_000368.1:n.735-30G>T
XM_011543977.1:c.735-30G>T	XP_011542279.1:n.735-30G>T
XM_011543977.2:c.735-30G>T	XP_011542279.1:n.735-30G>T
XM_017029786.1:c.735-30G>T	XP_016885275.1:n.735-30G>T
NM_000377.3:c.735-30G>T MANE Select	NP_000368.1:n.735-30G>T