Canonical Allele Identifier: CA243149
Gene: WAS HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.48685558G>A
GRCh37 chrX:g.48543947G>A
gnomAD v2:
X:48543947 G / A
gnomAD v3:
X:48685558 G / A
gnomAD v4:
chrX-48685558-G-A
Joint Max Group AF 0.00022871 (NFE)
Genomes Max Group AF 0.00007708 (AMR)
Exomes Max Group AF 0.00023851 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48685558G>A , CM000685.2:g.48685558G>A GRCh38
NC_000023.10:g.48543947G>A , CM000685.1:g.48543947G>A GRCh37
NC_000023.9:g.48428891G>A NCBI36
NG_007877.1:g.6762G>A , LRG_125:g.6762G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.318G>A
ENST00000698625.1:c.285G>A ENSP00000513844.1:p.Leu95=
ENST00000698626.1:c.285G>A ENSP00000513845.1:p.Leu95=
ENST00000698635.1:c.285G>A ENSP00000513850.1:p.Leu95=
ENST00000376701.5:c.285G>A MANE Select ENSP00000365891.4:p.Leu95=
ENST00000376701.4:c.285G>A ENSP00000365891.4:p.Leu95=
ENST00000450772.5:c.285G>A ENSP00000410537.1:p.Leu95=
ENST00000465982.5:n.320G>A
ENST00000483750.5:n.311G>A
NM_000377.2:c.285G>A , LRG_125t1:c.285G>A NP_000368.1:p.Leu95=
XM_011543977.1:c.285G>A XP_011542279.1:p.Leu95=
XM_011543977.2:c.285G>A XP_011542279.1:p.Leu95=
XM_017029786.1:c.285G>A XP_016885275.1:p.Leu95=
NM_000377.3:c.285G>A MANE Select NP_000368.1:p.Leu95=
Search 100 bp 5'
Search 100 bp 3'