Canonical Allele Identifier: CA2428354648

Gene: WAS

Linked Data

• ClinVar Variation Id: 1026089
• ClinVar RCV Id: RCV001326493
• dbSNP Id: rs2062416001

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48685538C>G , CM000685.2:g.48685538C>G	GRCh38
NC_000023.10:g.48543927C>G , CM000685.1:g.48543927C>G	GRCh37
NC_000023.9:g.48428871C>G	NCBI36
NG_007877.1:g.6742C>G , LRG_125:g.6742C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.307-9C>G
ENST00000698625.1:c.274-9C>G	ENSP00000513844.1:n.274-9C>G
ENST00000698626.1:c.274-9C>G	ENSP00000513845.1:n.274-9C>G
ENST00000698635.1:c.274-9C>G	ENSP00000513850.1:n.274-9C>G
ENST00000376701.5:c.274-9C>G MANE Select	ENSP00000365891.4:n.274-9C>G
ENST00000376701.4:c.274-9C>G	ENSP00000365891.4:n.274-9C>G
ENST00000450772.5:c.274-9C>G	ENSP00000410537.1:n.274-9C>G
ENST00000465982.5:n.309-9C>G
ENST00000483750.5:n.300-9C>G
NM_000377.2:c.274-9C>G , LRG_125t1:c.274-9C>G	NP_000368.1:n.274-9C>G
XM_011543977.1:c.274-9C>G	XP_011542279.1:n.274-9C>G
XM_011543977.2:c.274-9C>G	XP_011542279.1:n.274-9C>G
XM_017029786.1:c.274-9C>G	XP_016885275.1:n.274-9C>G
NM_000377.3:c.274-9C>G MANE Select	NP_000368.1:n.274-9C>G