Canonical Allele Identifier: CA329099100
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs782073563
gnomAD v2: X-48540137-G-A
gnomAD v3: X-48681748-G-A
gnomAD v4: X-48681748-G-A
MyVariant Identifiers: chrX:g.48540137G>A (hg19) chrX:g.48681748G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48681748G>A , CM000685.2:g.48681748G>A GRCh38
NC_000023.10:g.48540137G>A , CM000685.1:g.48540137G>A GRCh37
NC_000023.9:g.48425081G>A NCBI36
NG_007877.1:g.2952G>A , LRG_125:g.2952G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698625.1:c.-34-2072G>A ENSP00000513844.1:n.-34-2072G>A
ENST00000450772.5:c.-130-1520G>A ENSP00000410537.1:n.-130-1520G>A
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