Canonical Allele Identifier: CA412872125

Gene: WAS

Linked Data

• gnomAD v4: X-48688092-T-G
• MyVariant Identifiers: chrX:g.48546481T>G (hg19) ; chrX:g.48688092T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688092T>G , CM000685.2:g.48688092T>G	GRCh38
NC_000023.10:g.48546481T>G , CM000685.1:g.48546481T>G	GRCh37
NC_000023.9:g.48431425T>G	NCBI36
NG_007877.1:g.9296T>G , LRG_125:g.9296T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.806T>G
ENST00000490627.2:n.210T>G
ENST00000698625.1:c.773T>G	ENSP00000513844.1:p.Phe258Cys
ENST00000698626.1:c.773T>G	ENSP00000513845.1:p.Phe258Cys
ENST00000698635.1:c.773T>G	ENSP00000513850.1:p.Phe258Cys
ENST00000376701.5:c.773T>G MANE Select	ENSP00000365891.4:p.Phe258Cys
ENST00000376701.4:c.773T>G	ENSP00000365891.4:p.Phe258Cys
ENST00000465982.5:n.673T>G
ENST00000483750.5:n.799T>G
ENST00000490627.1:n.193T>G
NM_000377.2:c.773T>G , LRG_125t1:c.773T>G	NP_000368.1:p.Phe258Cys
XM_011543977.1:c.773T>G	XP_011542279.1:p.Phe258Cys
XM_011543977.2:c.773T>G	XP_011542279.1:p.Phe258Cys
XM_017029786.1:c.773T>G	XP_016885275.1:p.Phe258Cys
NM_000377.3:c.773T>G MANE Select	NP_000368.1:p.Phe258Cys