Canonical Allele Identifier: CA290468050
Gene: GSDMA HGNC NCBI

Linked Data

dbSNP Id: rs527690369
gnomAD v3: 17-39965480-T-C
gnomAD v4: 17-39965480-T-C
MyVariant Identifiers: chr17:g.38121733T>C (hg19) chr17:g.39965480T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39965480T>C , CM000679.2:g.39965480T>C GRCh38
NC_000017.10:g.38121733T>C , CM000679.1:g.38121733T>C GRCh37
NC_000017.9:g.35375259T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.-5-203T>C MANE Select ENSP00000301659.4:n.-5-203T>C
ENST00000635792.1:c.-5-203T>C ENSP00000490739.1:n.-5-203T>C
ENST00000301659.8:c.-5-203T>C ENSP00000301659.4:n.-5-203T>C
NM_178171.4:c.-5-203T>C NP_835465.2:n.-5-203T>C
XM_017024502.2:c.-5-203T>C XP_016879991.1:n.-5-203T>C
XM_017024503.1:c.-5-203T>C XP_016879992.1:n.-5-203T>C
XM_017024504.2:c.-5-203T>C XP_016879993.1:n.-5-203T>C
NM_178171.5:c.-5-203T>C MANE Select NP_835465.2:n.-5-203T>C
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