Canonical Allele Identifier: CA10404035

Gene: WAS

Linked Data

• ClinVar Variation Id: 803993
• ClinVar RCV Id: RCV000990813 ; RCV001517040
• dbSNP Id: rs201657175
• ExAC: X:48547198 C / A
• gnomAD v2: X-48547198-C-A
• gnomAD v3: X-48688809-C-A
• gnomAD v4: X-48688809-C-A
• MyVariant Identifiers: chrX:g.48547198C>A (hg19) ; chrX:g.48688809C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688809C>A , CM000685.2:g.48688809C>A	GRCh38
NC_000023.10:g.48547198C>A , CM000685.1:g.48547198C>A	GRCh37
NC_000023.9:g.48432142C>A	NCBI36
NG_007877.1:g.10013C>A , LRG_125:g.10013C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.325C>A
ENST00000698625.1:c.1081C>A	ENSP00000513844.1:p.Pro361Thr
ENST00000698626.1:c.1081C>A	ENSP00000513845.1:p.Pro361Thr
ENST00000698635.1:c.1081C>A	ENSP00000513850.1:p.Pro361Thr
ENST00000376701.5:c.1081C>A MANE Select	ENSP00000365891.4:p.Pro361Thr
ENST00000376701.4:c.1081C>A	ENSP00000365891.4:p.Pro361Thr
ENST00000474174.1:n.325C>A
NM_000377.2:c.1081C>A , LRG_125t1:c.1081C>A	NP_000368.1:p.Pro361Thr
XM_011543977.1:c.932-7C>A	XP_011542279.1:n.932-7C>A
XM_011543977.2:c.932-7C>A	XP_011542279.1:n.932-7C>A
XM_017029786.1:c.1081C>A	XP_016885275.1:p.Pro361Thr
NM_000377.3:c.1081C>A MANE Select	NP_000368.1:p.Pro361Thr