Canonical Allele Identifier: CA10404024

Gene: WAS

Linked Data

• ClinVar Variation Id: 2924966
• ClinVar RCV Id: RCV003788668
• dbSNP Id: rs782578703
• ExAC: X:48547113 G / T
• gnomAD v2: X-48547113-G-T
• gnomAD v4: X-48688724-G-T
• MyVariant Identifiers: chrX:g.48547113G>T (hg19) ; chrX:g.48688724G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688724G>T , CM000685.2:g.48688724G>T	GRCh38
NC_000023.10:g.48547113G>T , CM000685.1:g.48547113G>T	GRCh37
NC_000023.9:g.48432057G>T	NCBI36
NG_007877.1:g.9928G>T , LRG_125:g.9928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.240G>T
ENST00000698625.1:c.996G>T	ENSP00000513844.1:p.Val332=
ENST00000698626.1:c.996G>T	ENSP00000513845.1:p.Val332=
ENST00000698635.1:c.996G>T	ENSP00000513850.1:p.Val332=
ENST00000376701.5:c.996G>T MANE Select	ENSP00000365891.4:p.Val332=
ENST00000376701.4:c.996G>T	ENSP00000365891.4:p.Val332=
ENST00000474174.1:n.240G>T
NM_000377.2:c.996G>T , LRG_125t1:c.996G>T	NP_000368.1:p.Val332=
XM_011543977.1:c.932-92G>T	XP_011542279.1:n.932-92G>T
XM_011543977.2:c.932-92G>T	XP_011542279.1:n.932-92G>T
XM_017029786.1:c.996G>T	XP_016885275.1:p.Val332=
NM_000377.3:c.996G>T MANE Select	NP_000368.1:p.Val332=