Canonical Allele Identifier: CA412867707
Community Standard Title: NM_000377.3(WAS):c.401C>T (p.Ala134Val)
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48685774C>T , CM000685.2:g.48685774C>T GRCh38
NC_000023.10:g.48544163C>T , CM000685.1:g.48544163C>T GRCh37
NC_000023.9:g.48429107C>T NCBI36
NG_007877.1:g.6978C>T , LRG_125:g.6978C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000377.3:c.401C>T MANE Select NP_000368.1:p.Ala134Val
ENST00000376701.5:c.401C>T MANE Select ENSP00000365891.4:p.Ala134Val
NM_000377.2:c.401C>T , LRG_125t1:c.401C>T NP_000368.1:p.Ala134Val
ENST00000376701.4:c.401C>T ENSP00000365891.4:p.Ala134Val
ENST00000450772.5:c.401C>T ENSP00000410537.1:p.Ala134Val
ENST00000465982.5:n.436C>T
ENST00000483750.5:n.427C>T
ENST00000483750.6:n.434C>T
ENST00000490627.2:n.13C>T
ENST00000698625.1:c.401C>T ENSP00000513844.1:p.Ala134Val
ENST00000698626.1:c.401C>T ENSP00000513845.1:p.Ala134Val
ENST00000698635.1:c.401C>T ENSP00000513850.1:p.Ala134Val
XM_011543977.1:c.401C>T XP_011542279.1:p.Ala134Val
XM_011543977.2:c.401C>T XP_011542279.1:p.Ala134Val
XM_017029786.1:c.401C>T XP_016885275.1:p.Ala134Val