Canonical Allele Identifier: CA412873461

Gene: WAS

Linked Data

• ClinVar Variation Id: 2259033
• ClinVar RCV Id: RCV002773168
• gnomAD v4: X-48688915-C-A
• MyVariant Identifiers: chrX:g.48547304C>A (hg19) ; chrX:g.48688915C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688915C>A , CM000685.2:g.48688915C>A	GRCh38
NC_000023.10:g.48547304C>A , CM000685.1:g.48547304C>A	GRCh37
NC_000023.9:g.48432248C>A	NCBI36
NG_007877.1:g.10119C>A , LRG_125:g.10119C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000474174.2:n.431C>A
ENST00000698625.1:c.1187C>A	ENSP00000513844.1:p.Pro396Gln
ENST00000698626.1:c.1187C>A	ENSP00000513845.1:p.Pro396Gln
ENST00000698635.1:c.1187C>A	ENSP00000513850.1:p.Pro396Gln
ENST00000376701.5:c.1187C>A MANE Select	ENSP00000365891.4:p.Pro396Gln
ENST00000376701.4:c.1187C>A	ENSP00000365891.4:p.Pro396Gln
ENST00000474174.1:n.431C>A
NM_000377.2:c.1187C>A , LRG_125t1:c.1187C>A	NP_000368.1:p.Pro396Gln
XM_011543977.1:c.1031C>A	XP_011542279.1:p.Pro344Gln
XM_011543977.2:c.1031C>A	XP_011542279.1:p.Pro344Gln
XM_017029786.1:c.1187C>A	XP_016885275.1:p.Pro396Gln
NM_000377.3:c.1187C>A MANE Select	NP_000368.1:p.Pro396Gln