Canonical Allele Identifier: CA329099090
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs782651941
gnomAD v2: X-48540112-A-G
gnomAD v3: X-48681723-A-G
gnomAD v4: X-48681723-A-G
MyVariant Identifiers: chrX:g.48540112A>G (hg19) chrX:g.48681723A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48681723A>G , CM000685.2:g.48681723A>G GRCh38
NC_000023.10:g.48540112A>G , CM000685.1:g.48540112A>G GRCh37
NC_000023.9:g.48425056A>G NCBI36
NG_007877.1:g.2927A>G , LRG_125:g.2927A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-2097A>G ENSP00000513844.1:n.-34-2097A>G
ENST00000450772.5:c.-130-1545A>G ENSP00000410537.1:n.-130-1545A>G
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