Canonical Allele Identifier: CA16043320

Gene: WAS

Linked Data

• ClinVar Variation Id: 372545
• ClinVar RCV Id: RCV000413138 ; RCV001390443 ; RCV001810445 ; RCV001810446
• dbSNP Id: rs886039451
• gnomAD v4: X-48686139-G-A
• MyVariant Identifiers: chrX:g.48544528G>A (hg19) ; chrX:g.48686139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48686139G>A , CM000685.2:g.48686139G>A	GRCh38
NC_000023.10:g.48544528G>A , CM000685.1:g.48544528G>A	GRCh37
NC_000023.9:g.48429472G>A	NCBI36
NG_007877.1:g.7343G>A , LRG_125:g.7343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.592+5G>A
ENST00000490627.2:n.171+5G>A
ENST00000698625.1:c.559+5G>A	ENSP00000513844.1:n.559+5G>A
ENST00000698626.1:c.559+5G>A	ENSP00000513845.1:n.559+5G>A
ENST00000698635.1:c.559+5G>A	ENSP00000513850.1:n.559+5G>A
ENST00000376701.5:c.559+5G>A MANE Select	ENSP00000365891.4:n.559+5G>A
ENST00000376701.4:c.559+5G>A	ENSP00000365891.4:n.559+5G>A
ENST00000450772.5:c.559+5G>A	ENSP00000410537.1:n.559+5G>A
ENST00000465982.5:n.498+303G>A
ENST00000483750.5:n.585+5G>A
ENST00000490627.1:n.154+5G>A
NM_000377.2:c.559+5G>A , LRG_125t1:c.559+5G>A	NP_000368.1:n.559+5G>A
XM_011543977.1:c.559+5G>A	XP_011542279.1:n.559+5G>A
XM_011543977.2:c.559+5G>A	XP_011542279.1:n.559+5G>A
XM_017029786.1:c.559+5G>A	XP_016885275.1:n.559+5G>A
NM_000377.3:c.559+5G>A MANE Select	NP_000368.1:n.559+5G>A