Canonical Allele Identifier: CA10404025

Gene: WAS

Linked Data

• ClinVar Variation Id: 2937637
• ClinVar RCV Id: RCV003794267
• dbSNP Id: rs782578703
• ExAC: X:48547113 G / C
• gnomAD v2: X-48547113-G-C
• gnomAD v3: X-48688724-G-C
• gnomAD v4: X-48688724-G-C
• MyVariant Identifiers: chrX:g.48547113G>C (hg19) ; chrX:g.48688724G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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