Canonical Allele Identifier: CA121359
Gene: WAS HGNC NCBI

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
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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
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