Canonical Allele Identifier: CA2259332117
Gene: GSDMA HGNC NCBI

Linked Data

dbSNP Id: rs1598301838

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39965593A>C , CM000679.2:g.39965593A>C GRCh38
NC_000017.10:g.38121846A>C , CM000679.1:g.38121846A>C GRCh37
NC_000017.9:g.35375372A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.-5-90A>C MANE Select ENSP00000301659.4:n.-5-90A>C
ENST00000635792.1:c.-5-90A>C ENSP00000490739.1:n.-5-90A>C
ENST00000301659.8:c.-5-90A>C ENSP00000301659.4:n.-5-90A>C
ENST00000577447.1:c.-6+5A>C ENSP00000461985.1:n.-6+5A>C
NM_178171.4:c.-5-90A>C NP_835465.2:n.-5-90A>C
XM_006721832.2:c.-6+5A>C XP_006721895.1:n.-6+5A>C
XM_006721832.3:c.-6+5A>C XP_006721895.1:n.-6+5A>C
XM_017024502.2:c.-5-90A>C XP_016879991.1:n.-5-90A>C
XM_017024503.1:c.-5-90A>C XP_016879992.1:n.-5-90A>C
XM_017024504.2:c.-5-90A>C XP_016879993.1:n.-5-90A>C
NM_178171.5:c.-5-90A>C MANE Select NP_835465.2:n.-5-90A>C