Canonical Allele Identifier: CA641510209
Gene: WAS HGNC NCBI

Linked Data

dbSNP Id: rs1385014649
gnomAD v2: X-48540195-G-T
gnomAD v3: X-48681806-G-T
gnomAD v4: X-48681806-G-T
MyVariant Identifiers: chrX:g.48540195G>T (hg19) chrX:g.48681806G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48681806G>T , CM000685.2:g.48681806G>T GRCh38
NC_000023.10:g.48540195G>T , CM000685.1:g.48540195G>T GRCh37
NC_000023.9:g.48425139G>T NCBI36
NG_007877.1:g.3010G>T , LRG_125:g.3010G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698625.1:c.-34-2014G>T ENSP00000513844.1:n.-34-2014G>T
ENST00000450772.5:c.-130-1462G>T ENSP00000410537.1:n.-130-1462G>T
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