Canonical Allele Identifier: CA10403992

Gene: WAS

Linked Data

• ClinVar Variation Id: 1461223
• ClinVar RCV Id: RCV001965751
• dbSNP Id: rs376560886
• ExAC: X:48546714 G / A
• gnomAD v2: X-48546714-G-A
• gnomAD v3: X-48688325-G-A
• gnomAD v4: X-48688325-G-A
• MyVariant Identifiers: chrX:g.48546714G>A (hg19) ; chrX:g.48688325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688325G>A , CM000685.2:g.48688325G>A	GRCh38
NC_000023.10:g.48546714G>A , CM000685.1:g.48546714G>A	GRCh37
NC_000023.9:g.48431658G>A	NCBI36
NG_007877.1:g.9529G>A , LRG_125:g.9529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.47G>A
ENST00000483750.6:n.1039G>A
ENST00000698625.1:c.803G>A	ENSP00000513844.1:p.Arg268Gln
ENST00000698626.1:c.803G>A	ENSP00000513845.1:p.Arg268Gln
ENST00000698635.1:c.803G>A	ENSP00000513850.1:p.Arg268Gln
ENST00000376701.5:c.803G>A MANE Select	ENSP00000365891.4:p.Arg268Gln
ENST00000376701.4:c.803G>A	ENSP00000365891.4:p.Arg268Gln
ENST00000474174.1:n.47G>A
NM_000377.2:c.803G>A , LRG_125t1:c.803G>A	NP_000368.1:p.Arg268Gln
XM_011543977.1:c.803G>A	XP_011542279.1:p.Arg268Gln
XM_011543977.2:c.803G>A	XP_011542279.1:p.Arg268Gln
XM_017029786.1:c.803G>A	XP_016885275.1:p.Arg268Gln
NM_000377.3:c.803G>A MANE Select	NP_000368.1:p.Arg268Gln