Canonical Allele Identifier: CA162684
Gene: WAS HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.48685764G>A
GRCh37 chrX:g.48544153G>A
Revel Score:
ENST00000450772 0.845
ENST00000376701 (MANE Select) 0.845
gnomAD v2:
X:48544153 G / A
gnomAD v3:
X:48685764 G / A
gnomAD v4:
chrX-48685764-G-A
Joint Max Group AF 0.00281135 (NFE)
Genomes Max Group AF 0.00295772 (NFE)
Exomes Max Group AF 0.00277951 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48685764G>A , CM000685.2:g.48685764G>A GRCh38
NC_000023.10:g.48544153G>A , CM000685.1:g.48544153G>A GRCh37
NC_000023.9:g.48429097G>A NCBI36
NG_007877.1:g.6968G>A , LRG_125:g.6968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.424G>A
ENST00000490627.2:n.3G>A
ENST00000698625.1:c.391G>A ENSP00000513844.1:p.Glu131Lys
ENST00000698626.1:c.391G>A ENSP00000513845.1:p.Glu131Lys
ENST00000698635.1:c.391G>A ENSP00000513850.1:p.Glu131Lys
ENST00000376701.5:c.391G>A MANE Select ENSP00000365891.4:p.Glu131Lys
ENST00000376701.4:c.391G>A ENSP00000365891.4:p.Glu131Lys
ENST00000450772.5:c.391G>A ENSP00000410537.1:p.Glu131Lys
ENST00000465982.5:n.426G>A
ENST00000483750.5:n.417G>A
NM_000377.2:c.391G>A , LRG_125t1:c.391G>A NP_000368.1:p.Glu131Lys
XM_011543977.1:c.391G>A XP_011542279.1:p.Glu131Lys
XM_011543977.2:c.391G>A XP_011542279.1:p.Glu131Lys
XM_017029786.1:c.391G>A XP_016885275.1:p.Glu131Lys
NM_000377.3:c.391G>A MANE Select NP_000368.1:p.Glu131Lys
Search 100 bp 5'
Search 100 bp 3'