Canonical Allele Identifier: CA342897
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 36911
ClinVar RCV Id: RCV000030595 RCV001230612 RCV001311067
dbSNP Id: rs193922415
COSMIC: COSM3780494
MyVariant Identifiers: chrX:g.48542279C>T (hg19) chrX:g.48683890C>T (hg38)
PubMed: PMID:12969986 PMID:17400488 PMID:17703096 PMID:18162713
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48683890C>T , CM000685.2:g.48683890C>T GRCh38
NC_000023.10:g.48542279C>T , CM000685.1:g.48542279C>T GRCh37
NC_000023.9:g.48427223C>T NCBI36
NG_007877.1:g.5094C>T , LRG_125:g.5094C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000483750.6:n.70C>T
ENST00000698625.1:c.37C>T ENSP00000513844.1:p.Arg13Ter
ENST00000698626.1:c.37C>T ENSP00000513845.1:p.Arg13Ter
ENST00000698635.1:c.37C>T ENSP00000513850.1:p.Arg13Ter
ENST00000376701.5:c.37C>T MANE Select ENSP00000365891.4:p.Arg13Ter
ENST00000376701.4:c.37C>T ENSP00000365891.4:p.Arg13Ter
ENST00000450772.5:c.37C>T ENSP00000410537.1:p.Arg13Ter
ENST00000465982.5:n.72C>T
ENST00000483750.5:n.63C>T
NM_000377.2:c.37C>T , LRG_125t1:c.37C>T NP_000368.1:p.Arg13Ter
XM_011543977.1:c.37C>T XP_011542279.1:p.Arg13Ter
XM_011543977.2:c.37C>T XP_011542279.1:p.Arg13Ter
XM_017029786.1:c.37C>T XP_016885275.1:p.Arg13Ter
NM_000377.3:c.37C>T MANE Select NP_000368.1:p.Arg13Ter
Search 100 bp 5'
Search 100 bp 3'