Canonical Allele Identifier: CA243149

Gene: WAS

Linked Data

• ClinVar Variation Id: 196259
• ClinVar RCV Id: RCV000177052 ; RCV001088097 ; RCV001818426
• dbSNP Id: rs781799471
• ExAC: X:48543947 G / A
• gnomAD v2: X-48543947-G-A
• gnomAD v3: X-48685558-G-A
• gnomAD v4: X-48685558-G-A
• MyVariant Identifiers: chrX:g.48543947G>A (hg19) ; chrX:g.48685558G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48685558G>A , CM000685.2:g.48685558G>A	GRCh38
NC_000023.10:g.48543947G>A , CM000685.1:g.48543947G>A	GRCh37
NC_000023.9:g.48428891G>A	NCBI36
NG_007877.1:g.6762G>A , LRG_125:g.6762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.318G>A
ENST00000698625.1:c.285G>A	ENSP00000513844.1:p.Leu95=
ENST00000698626.1:c.285G>A	ENSP00000513845.1:p.Leu95=
ENST00000698635.1:c.285G>A	ENSP00000513850.1:p.Leu95=
ENST00000376701.5:c.285G>A MANE Select	ENSP00000365891.4:p.Leu95=
ENST00000376701.4:c.285G>A	ENSP00000365891.4:p.Leu95=
ENST00000450772.5:c.285G>A	ENSP00000410537.1:p.Leu95=
ENST00000465982.5:n.320G>A
ENST00000483750.5:n.311G>A
NM_000377.2:c.285G>A , LRG_125t1:c.285G>A	NP_000368.1:p.Leu95=
XM_011543977.1:c.285G>A	XP_011542279.1:p.Leu95=
XM_011543977.2:c.285G>A	XP_011542279.1:p.Leu95=
XM_017029786.1:c.285G>A	XP_016885275.1:p.Leu95=
NM_000377.3:c.285G>A MANE Select	NP_000368.1:p.Leu95=