Canonical Allele Identifier: CA412872064

Gene: WAS

Linked Data

• ClinVar Variation Id: 1714433
• ClinVar RCV Id: RCV002297355
• MyVariant Identifiers: chrX:g.48546455C>A (hg19) ; chrX:g.48688066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688066C>A , CM000685.2:g.48688066C>A	GRCh38
NC_000023.10:g.48546455C>A , CM000685.1:g.48546455C>A	GRCh37
NC_000023.9:g.48431399C>A	NCBI36
NG_007877.1:g.9270C>A , LRG_125:g.9270C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.780C>A
ENST00000490627.2:n.184C>A
ENST00000698625.1:c.747C>A	ENSP00000513844.1:p.His249Gln
ENST00000698626.1:c.747C>A	ENSP00000513845.1:p.His249Gln
ENST00000698635.1:c.747C>A	ENSP00000513850.1:p.His249Gln
ENST00000376701.5:c.747C>A MANE Select	ENSP00000365891.4:p.His249Gln
ENST00000376701.4:c.747C>A	ENSP00000365891.4:p.His249Gln
ENST00000465982.5:n.647C>A
ENST00000483750.5:n.773C>A
ENST00000490627.1:n.167C>A
NM_000377.2:c.747C>A , LRG_125t1:c.747C>A	NP_000368.1:p.His249Gln
XM_011543977.1:c.747C>A	XP_011542279.1:p.His249Gln
XM_011543977.2:c.747C>A	XP_011542279.1:p.His249Gln
XM_017029786.1:c.747C>A	XP_016885275.1:p.His249Gln
NM_000377.3:c.747C>A MANE Select	NP_000368.1:p.His249Gln