Canonical Allele Identifier: CA329099064
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs369966589
gnomAD v3: X-48681682-G-A
gnomAD v4: X-48681682-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48681682G>A , CM000685.2:g.48681682G>A GRCh38
NC_000023.10:g.48540071G>A , CM000685.1:g.48540071G>A GRCh37
NC_000023.9:g.48425015G>A NCBI36
NG_007877.1:g.2886G>A , LRG_125:g.2886G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698625.1:c.-34-2138G>A ENSP00000513844.1:n.-34-2138G>A
ENST00000450772.5:c.-130-1586G>A ENSP00000410537.1:n.-130-1586G>A