Canonical Allele Identifier: CA329099098
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs781832234
gnomAD v2: X-48540136-C-G
gnomAD v3: X-48681747-C-G
gnomAD v4: X-48681747-C-G
MyVariant Identifiers: chrX:g.48540136C>G (hg19) chrX:g.48681747C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48681747C>G , CM000685.2:g.48681747C>G GRCh38
NC_000023.10:g.48540136C>G , CM000685.1:g.48540136C>G GRCh37
NC_000023.9:g.48425080C>G NCBI36
NG_007877.1:g.2951C>G , LRG_125:g.2951C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-2073C>G ENSP00000513844.1:n.-34-2073C>G
ENST00000450772.5:c.-130-1521C>G ENSP00000410537.1:n.-130-1521C>G
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