Canonical Allele Identifier: CA412872755

Gene: WAS

Linked Data

• ClinVar Variation Id: 449515
• ClinVar RCV Id: RCV000520558 ; RCV000818878 ; RCV003155223
• dbSNP Id: rs1557007123
• MyVariant Identifiers: chrX:g.48547078C>T (hg19) ; chrX:g.48688689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688689C>T , CM000685.2:g.48688689C>T	GRCh38
NC_000023.10:g.48547078C>T , CM000685.1:g.48547078C>T	GRCh37
NC_000023.9:g.48432022C>T	NCBI36
NG_007877.1:g.9893C>T , LRG_125:g.9893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.205C>T
ENST00000698625.1:c.961C>T	ENSP00000513844.1:p.Arg321Ter
ENST00000698626.1:c.961C>T	ENSP00000513845.1:p.Arg321Ter
ENST00000698635.1:c.961C>T	ENSP00000513850.1:p.Arg321Ter
ENST00000376701.5:c.961C>T MANE Select	ENSP00000365891.4:p.Arg321Ter
ENST00000376701.4:c.961C>T	ENSP00000365891.4:p.Arg321Ter
ENST00000474174.1:n.205C>T
NM_000377.2:c.961C>T , LRG_125t1:c.961C>T	NP_000368.1:p.Arg321Ter
XM_011543977.1:c.932-127C>T	XP_011542279.1:n.932-127C>T
XM_011543977.2:c.932-127C>T	XP_011542279.1:n.932-127C>T
XM_017029786.1:c.961C>T	XP_016885275.1:p.Arg321Ter
NM_000377.3:c.961C>T MANE Select	NP_000368.1:p.Arg321Ter