Canonical Allele Identifier: CA16609187

Gene: WAS

Linked Data

• ClinVar Variation Id: 381690
• ClinVar RCV Id: RCV000440734 ; RCV001174594 ; RCV003766237
• dbSNP Id: rs1057520700
• MyVariant Identifiers: chrX:g.48544023G>A (hg19) ; chrX:g.48685634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48685634G>A , CM000685.2:g.48685634G>A	GRCh38
NC_000023.10:g.48544023G>A , CM000685.1:g.48544023G>A	GRCh37
NC_000023.9:g.48428967G>A	NCBI36
NG_007877.1:g.6838G>A , LRG_125:g.6838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.393+1G>A
ENST00000698625.1:c.360+1G>A	ENSP00000513844.1:n.360+1G>A
ENST00000698626.1:c.360+1G>A	ENSP00000513845.1:n.360+1G>A
ENST00000698635.1:c.360+1G>A	ENSP00000513850.1:n.360+1G>A
ENST00000376701.5:c.360+1G>A MANE Select	ENSP00000365891.4:n.360+1G>A
ENST00000376701.4:c.360+1G>A	ENSP00000365891.4:n.360+1G>A
ENST00000450772.5:c.360+1G>A	ENSP00000410537.1:n.360+1G>A
ENST00000465982.5:n.395+1G>A
ENST00000483750.5:n.386+1G>A
NM_000377.2:c.360+1G>A , LRG_125t1:c.360+1G>A	NP_000368.1:n.360+1G>A
XM_011543977.1:c.360+1G>A	XP_011542279.1:n.360+1G>A
XM_011543977.2:c.360+1G>A	XP_011542279.1:n.360+1G>A
XM_017029786.1:c.360+1G>A	XP_016885275.1:n.360+1G>A
NM_000377.3:c.360+1G>A MANE Select	NP_000368.1:n.360+1G>A