Canonical Allele Identifier: CA2503545104
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688032G>T , CM000685.2:g.48688032G>T GRCh38
NC_000023.10:g.48546421G>T , CM000685.1:g.48546421G>T GRCh37
NC_000023.9:g.48431365G>T NCBI36
NG_007877.1:g.9236G>T , LRG_125:g.9236G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.768-22G>T
ENST00000490627.2:n.172-22G>T
ENST00000698625.1:c.735-22G>T ENSP00000513844.1:n.735-22G>T
ENST00000698626.1:c.735-22G>T ENSP00000513845.1:n.735-22G>T
ENST00000698635.1:c.735-22G>T ENSP00000513850.1:n.735-22G>T
ENST00000376701.5:c.735-22G>T MANE Select ENSP00000365891.4:n.735-22G>T
ENST00000376701.4:c.735-22G>T ENSP00000365891.4:n.735-22G>T
ENST00000465982.5:n.635-22G>T
ENST00000483750.5:n.761-22G>T
ENST00000490627.1:n.155-22G>T
NM_000377.2:c.735-22G>T , LRG_125t1:c.735-22G>T NP_000368.1:n.735-22G>T
XM_011543977.1:c.735-22G>T XP_011542279.1:n.735-22G>T
XM_011543977.2:c.735-22G>T XP_011542279.1:n.735-22G>T
XM_017029786.1:c.735-22G>T XP_016885275.1:n.735-22G>T
NM_000377.3:c.735-22G>T MANE Select NP_000368.1:n.735-22G>T