Canonical Allele Identifier: CA290468055
Gene: GSDMA HGNC NCBI

Linked Data

dbSNP Id: rs779897264
gnomAD v2: 17-38121756-A-G
gnomAD v3: 17-39965503-A-G
gnomAD v4: 17-39965503-A-G
MyVariant Identifiers: chr17:g.38121756A>G (hg19) chr17:g.39965503A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39965503A>G , CM000679.2:g.39965503A>G GRCh38
NC_000017.10:g.38121756A>G , CM000679.1:g.38121756A>G GRCh37
NC_000017.9:g.35375282A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.-5-180A>G MANE Select ENSP00000301659.4:n.-5-180A>G
ENST00000635792.1:c.-5-180A>G ENSP00000490739.1:n.-5-180A>G
ENST00000301659.8:c.-5-180A>G ENSP00000301659.4:n.-5-180A>G
NM_178171.4:c.-5-180A>G NP_835465.2:n.-5-180A>G
XM_017024502.2:c.-5-180A>G XP_016879991.1:n.-5-180A>G
XM_017024503.1:c.-5-180A>G XP_016879992.1:n.-5-180A>G
XM_017024504.2:c.-5-180A>G XP_016879993.1:n.-5-180A>G
NM_178171.5:c.-5-180A>G MANE Select NP_835465.2:n.-5-180A>G
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