Canonical Allele Identifier: CA1132959956
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs2062400797
gnomAD v3: X-48681726-A-C
gnomAD v4: X-48681726-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48681726A>C , CM000685.2:g.48681726A>C GRCh38
NC_000023.10:g.48540115A>C , CM000685.1:g.48540115A>C GRCh37
NC_000023.9:g.48425059A>C NCBI36
NG_007877.1:g.2930A>C , LRG_125:g.2930A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-2094A>C ENSP00000513844.1:n.-34-2094A>C
ENST00000450772.5:c.-130-1542A>C ENSP00000410537.1:n.-130-1542A>C