Canonical Allele Identifier: CA412865286

Gene: WAS

Linked Data

• ClinVar Variation Id: 2660462
• ClinVar RCV Id: RCV003438236
• dbSNP Id: rs1440423616
• gnomAD v2: X-48542280-G-A
• gnomAD v3: X-48683891-G-A
• gnomAD v4: X-48683891-G-A
• COSMIC: COSM2966504
• MyVariant Identifiers: chrX:g.48542280G>A (hg19) ; chrX:g.48683891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48683891G>A , CM000685.2:g.48683891G>A	GRCh38
NC_000023.10:g.48542280G>A , CM000685.1:g.48542280G>A	GRCh37
NC_000023.9:g.48427224G>A	NCBI36
NG_007877.1:g.5095G>A , LRG_125:g.5095G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.71G>A
ENST00000698625.1:c.38G>A	ENSP00000513844.1:p.Arg13Gln
ENST00000698626.1:c.38G>A	ENSP00000513845.1:p.Arg13Gln
ENST00000698635.1:c.38G>A	ENSP00000513850.1:p.Arg13Gln
ENST00000376701.5:c.38G>A MANE Select	ENSP00000365891.4:p.Arg13Gln
ENST00000376701.4:c.38G>A	ENSP00000365891.4:p.Arg13Gln
ENST00000450772.5:c.38G>A	ENSP00000410537.1:p.Arg13Gln
ENST00000465982.5:n.73G>A
ENST00000483750.5:n.64G>A
NM_000377.2:c.38G>A , LRG_125t1:c.38G>A	NP_000368.1:p.Arg13Gln
XM_011543977.1:c.38G>A	XP_011542279.1:p.Arg13Gln
XM_011543977.2:c.38G>A	XP_011542279.1:p.Arg13Gln
XM_017029786.1:c.38G>A	XP_016885275.1:p.Arg13Gln
NM_000377.3:c.38G>A MANE Select	NP_000368.1:p.Arg13Gln