Canonical Allele Identifier: CA14448871
Gene: GSDMA HGNC NCBI

Linked Data

dbSNP Id: rs7219080
gnomAD v2: 17-38114516-A-C
gnomAD v3: 17-39958263-A-C
gnomAD v4: 17-39958263-A-C
MyVariant Identifiers: chr17:g.38114516A>C (hg19) chr17:g.39958263A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39958263A>C , CM000679.2:g.39958263A>C GRCh38
NC_000017.10:g.38114516A>C , CM000679.1:g.38114516A>C GRCh37
NC_000017.9:g.35368042A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000635792.1:c.-6+4958A>C ENSP00000490739.1:n.-6+4958A>C
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