Canonical Allele Identifier: CA516356250

Gene: WAS

Linked Data

• ClinVar Variation Id: 2927442
• ClinVar RCV Id: RCV003784072
• gnomAD v4: X-48688859-T-G
• MyVariant Identifiers: chrX:g.48547248T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688859T>G , CM000685.2:g.48688859T>G	GRCh38
NC_000023.10:g.48547248T>G , CM000685.1:g.48547248T>G	GRCh37
NC_000023.9:g.48432192T>G	NCBI36
NG_007877.1:g.10063T>G , LRG_125:g.10063T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.375T>G
ENST00000698625.1:c.1131T>G	ENSP00000513844.1:p.Arg377=
ENST00000698626.1:c.1131T>G	ENSP00000513845.1:p.Arg377=
ENST00000698635.1:c.1131T>G	ENSP00000513850.1:p.Arg377=
ENST00000376701.5:c.1131T>G MANE Select	ENSP00000365891.4:p.Arg377=
ENST00000376701.4:c.1131T>G	ENSP00000365891.4:p.Arg377=
ENST00000474174.1:n.375T>G
NM_000377.2:c.1131T>G , LRG_125t1:c.1131T>G	NP_000368.1:p.Arg377=
XM_011543977.1:c.975T>G	XP_011542279.1:p.Arg325=
XM_011543977.2:c.975T>G	XP_011542279.1:p.Arg325=
XM_017029786.1:c.1131T>G	XP_016885275.1:p.Arg377=
NM_000377.3:c.1131T>G MANE Select	NP_000368.1:p.Arg377=