Canonical Allele Identifier: CA121359

Gene: WAS

Linked Data

• ClinVar Variation Id: 11122
• ClinVar RCV Id: RCV000011871 ; RCV001509116
• dbSNP Id: rs132630272
• MyVariant Identifiers: chrX:g.48542783T>C (hg19) ; chrX:g.48684394T>C (hg38)
• PubMed: PMID:7735919 ; PMID:8528198

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48684394T>C , CM000685.2:g.48684394T>C	GRCh38
NC_000023.10:g.48542783T>C , CM000685.1:g.48542783T>C	GRCh37
NC_000023.9:g.48427727T>C	NCBI36
NG_007877.1:g.5598T>C , LRG_125:g.5598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.277T>C
ENST00000698625.1:c.244T>C	ENSP00000513844.1:p.Ser82Pro
ENST00000698626.1:c.244T>C	ENSP00000513845.1:p.Ser82Pro
ENST00000698635.1:c.244T>C	ENSP00000513850.1:p.Ser82Pro
ENST00000376701.5:c.244T>C MANE Select	ENSP00000365891.4:p.Ser82Pro
ENST00000376701.4:c.244T>C	ENSP00000365891.4:p.Ser82Pro
ENST00000450772.5:c.244T>C	ENSP00000410537.1:p.Ser82Pro
ENST00000465982.5:n.279T>C
ENST00000483750.5:n.270T>C
NM_000377.2:c.244T>C , LRG_125t1:c.244T>C	NP_000368.1:p.Ser82Pro
XM_011543977.1:c.244T>C	XP_011542279.1:p.Ser82Pro
XM_011543977.2:c.244T>C	XP_011542279.1:p.Ser82Pro
XM_017029786.1:c.244T>C	XP_016885275.1:p.Ser82Pro
NM_000377.3:c.244T>C MANE Select	NP_000368.1:p.Ser82Pro