Canonical Allele Identifier: CA412872864

Gene: WAS

Linked Data

• gnomAD v4: X-48688717-C-A
• MyVariant Identifiers: chrX:g.48547106C>A (hg19) ; chrX:g.48688717C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688717C>A , CM000685.2:g.48688717C>A	GRCh38
NC_000023.10:g.48547106C>A , CM000685.1:g.48547106C>A	GRCh37
NC_000023.9:g.48432050C>A	NCBI36
NG_007877.1:g.9921C>A , LRG_125:g.9921C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.233C>A
ENST00000698625.1:c.989C>A	ENSP00000513844.1:p.Pro330His
ENST00000698626.1:c.989C>A	ENSP00000513845.1:p.Pro330His
ENST00000698635.1:c.989C>A	ENSP00000513850.1:p.Pro330His
ENST00000376701.5:c.989C>A MANE Select	ENSP00000365891.4:p.Pro330His
ENST00000376701.4:c.989C>A	ENSP00000365891.4:p.Pro330His
ENST00000474174.1:n.233C>A
NM_000377.2:c.989C>A , LRG_125t1:c.989C>A	NP_000368.1:p.Pro330His
XM_011543977.1:c.932-99C>A	XP_011542279.1:n.932-99C>A
XM_011543977.2:c.932-99C>A	XP_011542279.1:n.932-99C>A
XM_017029786.1:c.989C>A	XP_016885275.1:p.Pro330His
NM_000377.3:c.989C>A MANE Select	NP_000368.1:p.Pro330His