Canonical Allele Identifier: CA329099122
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs945146292
gnomAD v3: X-48681802-A-G
gnomAD v4: X-48681802-A-G
MyVariant Identifiers: chrX:g.48681802A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48681802A>G , CM000685.2:g.48681802A>G GRCh38
NC_000023.10:g.48540191A>G , CM000685.1:g.48540191A>G GRCh37
NC_000023.9:g.48425135A>G NCBI36
NG_007877.1:g.3006A>G , LRG_125:g.3006A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-2018A>G ENSP00000513844.1:n.-34-2018A>G
ENST00000450772.5:c.-130-1466A>G ENSP00000410537.1:n.-130-1466A>G