Canonical Allele Identifier: CA412872102

Gene: WAS

Linked Data

• gnomAD v4: X-48688082-C-A
• MyVariant Identifiers: chrX:g.48546471C>A (hg19) ; chrX:g.48688082C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688082C>A , CM000685.2:g.48688082C>A	GRCh38
NC_000023.10:g.48546471C>A , CM000685.1:g.48546471C>A	GRCh37
NC_000023.9:g.48431415C>A	NCBI36
NG_007877.1:g.9286C>A , LRG_125:g.9286C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.796C>A
ENST00000490627.2:n.200C>A
ENST00000698625.1:c.763C>A	ENSP00000513844.1:p.Gln255Lys
ENST00000698626.1:c.763C>A	ENSP00000513845.1:p.Gln255Lys
ENST00000698635.1:c.763C>A	ENSP00000513850.1:p.Gln255Lys
ENST00000376701.5:c.763C>A MANE Select	ENSP00000365891.4:p.Gln255Lys
ENST00000376701.4:c.763C>A	ENSP00000365891.4:p.Gln255Lys
ENST00000465982.5:n.663C>A
ENST00000483750.5:n.789C>A
ENST00000490627.1:n.183C>A
NM_000377.2:c.763C>A , LRG_125t1:c.763C>A	NP_000368.1:p.Gln255Lys
XM_011543977.1:c.763C>A	XP_011542279.1:p.Gln255Lys
XM_011543977.2:c.763C>A	XP_011542279.1:p.Gln255Lys
XM_017029786.1:c.763C>A	XP_016885275.1:p.Gln255Lys
NM_000377.3:c.763C>A MANE Select	NP_000368.1:p.Gln255Lys