Canonical Allele Identifier: CA341005
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 11119
dbSNP Id: rs132630271

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48683953C>T , CM000685.2:g.48683953C>T GRCh38
NC_000023.10:g.48542342C>T , CM000685.1:g.48542342C>T GRCh37
NC_000023.9:g.48427286C>T NCBI36
NG_007877.1:g.5157C>T , LRG_125:g.5157C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.133C>T
ENST00000698625.1:c.100C>T ENSP00000513844.1:p.Arg34Ter
ENST00000698626.1:c.100C>T ENSP00000513845.1:p.Arg34Ter
ENST00000698635.1:c.100C>T ENSP00000513850.1:p.Arg34Ter
ENST00000376701.5:c.100C>T MANE Select ENSP00000365891.4:p.Arg34Ter
ENST00000376701.4:c.100C>T ENSP00000365891.4:p.Arg34Ter
ENST00000450772.5:c.100C>T ENSP00000410537.1:p.Arg34Ter
ENST00000465982.5:n.135C>T
ENST00000483750.5:n.126C>T
NM_000377.2:c.100C>T , LRG_125t1:c.100C>T NP_000368.1:p.Arg34Ter
XM_011543977.1:c.100C>T XP_011542279.1:p.Arg34Ter
XM_011543977.2:c.100C>T XP_011542279.1:p.Arg34Ter
XM_017029786.1:c.100C>T XP_016885275.1:p.Arg34Ter
NM_000377.3:c.100C>T MANE Select NP_000368.1:p.Arg34Ter