Canonical Allele Identifier: CA412872043

Gene: WAS

Linked Data

• dbSNP Id: rs1569493949
• gnomAD v2: X-48546446-T-G
• gnomAD v3: X-48688057-T-G
• gnomAD v4: X-48688057-T-G
• MyVariant Identifiers: chrX:g.48546446T>G (hg19) ; chrX:g.48688057T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688057T>G , CM000685.2:g.48688057T>G	GRCh38
NC_000023.10:g.48546446T>G , CM000685.1:g.48546446T>G	GRCh37
NC_000023.9:g.48431390T>G	NCBI36
NG_007877.1:g.9261T>G , LRG_125:g.9261T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.771T>G
ENST00000490627.2:n.175T>G
ENST00000698625.1:c.738T>G	ENSP00000513844.1:p.His246Gln
ENST00000698626.1:c.738T>G	ENSP00000513845.1:p.His246Gln
ENST00000698635.1:c.738T>G	ENSP00000513850.1:p.His246Gln
ENST00000376701.5:c.738T>G MANE Select	ENSP00000365891.4:p.His246Gln
ENST00000376701.4:c.738T>G	ENSP00000365891.4:p.His246Gln
ENST00000465982.5:n.638T>G
ENST00000483750.5:n.764T>G
ENST00000490627.1:n.158T>G
NM_000377.2:c.738T>G , LRG_125t1:c.738T>G	NP_000368.1:p.His246Gln
XM_011543977.1:c.738T>G	XP_011542279.1:p.His246Gln
XM_011543977.2:c.738T>G	XP_011542279.1:p.His246Gln
XM_017029786.1:c.738T>G	XP_016885275.1:p.His246Gln
NM_000377.3:c.738T>G MANE Select	NP_000368.1:p.His246Gln