Canonical Allele Identifier: CA281101

Gene: WAS

Linked Data

• ClinVar Variation Id: 29966
• ClinVar RCV Id: RCV000022858 ; RCV003764631
• dbSNP Id: rs387906716
• MyVariant Identifiers: chrX:g.48546725T>C (hg19) ; chrX:g.48688336T>C (hg38)
• PubMed: PMID:16804117

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688336T>C , CM000685.2:g.48688336T>C	GRCh38
NC_000023.10:g.48546725T>C , CM000685.1:g.48546725T>C	GRCh37
NC_000023.9:g.48431669T>C	NCBI36
NG_007877.1:g.9540T>C , LRG_125:g.9540T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.58T>C
ENST00000483750.6:n.1050T>C
ENST00000698625.1:c.814T>C	ENSP00000513844.1:p.Ser272Pro
ENST00000698626.1:c.814T>C	ENSP00000513845.1:p.Ser272Pro
ENST00000698635.1:c.814T>C	ENSP00000513850.1:p.Ser272Pro
ENST00000376701.5:c.814T>C MANE Select	ENSP00000365891.4:p.Ser272Pro
ENST00000376701.4:c.814T>C	ENSP00000365891.4:p.Ser272Pro
ENST00000474174.1:n.58T>C
NM_000377.2:c.814T>C , LRG_125t1:c.814T>C	NP_000368.1:p.Ser272Pro
XM_011543977.1:c.814T>C	XP_011542279.1:p.Ser272Pro
XM_011543977.2:c.814T>C	XP_011542279.1:p.Ser272Pro
XM_017029786.1:c.814T>C	XP_016885275.1:p.Ser272Pro
NM_000377.3:c.814T>C MANE Select	NP_000368.1:p.Ser272Pro