Canonical Allele Identifier: CA255723

Gene: WAS

Linked Data

• ClinVar Variation Id: 11116
• ClinVar RCV Id: RCV002243636 ; RCV001563489 ; RCV003764557 ; RCV000011865
• dbSNP Id: rs132630269
• COSMIC: COSM1122129
• MyVariant Identifiers: chrX:g.48542706C>T (hg19) ; chrX:g.48684317C>T (hg38)
• PubMed: PMID:7795648

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48684317C>T , CM000685.2:g.48684317C>T	GRCh38
NC_000023.10:g.48542706C>T , CM000685.1:g.48542706C>T	GRCh37
NC_000023.9:g.48427650C>T	NCBI36
NG_007877.1:g.5521C>T , LRG_125:g.5521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.200C>T
ENST00000698625.1:c.167C>T	ENSP00000513844.1:p.Ala56Val
ENST00000698626.1:c.167C>T	ENSP00000513845.1:p.Ala56Val
ENST00000698635.1:c.167C>T	ENSP00000513850.1:p.Ala56Val
ENST00000376701.5:c.167C>T MANE Select	ENSP00000365891.4:p.Ala56Val
ENST00000376701.4:c.167C>T	ENSP00000365891.4:p.Ala56Val
ENST00000450772.5:c.167C>T	ENSP00000410537.1:p.Ala56Val
ENST00000465982.5:n.202C>T
ENST00000483750.5:n.193C>T
NM_000377.2:c.167C>T , LRG_125t1:c.167C>T	NP_000368.1:p.Ala56Val
XM_011543977.1:c.167C>T	XP_011542279.1:p.Ala56Val
XM_011543977.2:c.167C>T	XP_011542279.1:p.Ala56Val
XM_017029786.1:c.167C>T	XP_016885275.1:p.Ala56Val
NM_000377.3:c.167C>T MANE Select	NP_000368.1:p.Ala56Val