Canonical Allele Identifier: CA2637662293
Gene: GSDMA HGNC NCBI

Linked Data

gnomAD v4: 17-39965476-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39965476C>G , CM000679.2:g.39965476C>G GRCh38
NC_000017.10:g.38121729C>G , CM000679.1:g.38121729C>G GRCh37
NC_000017.9:g.35375255C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.-5-207C>G MANE Select ENSP00000301659.4:n.-5-207C>G
ENST00000635792.1:c.-5-207C>G ENSP00000490739.1:n.-5-207C>G
ENST00000301659.8:c.-5-207C>G ENSP00000301659.4:n.-5-207C>G
NM_178171.4:c.-5-207C>G NP_835465.2:n.-5-207C>G
XM_017024502.2:c.-5-207C>G XP_016879991.1:n.-5-207C>G
XM_017024503.1:c.-5-207C>G XP_016879992.1:n.-5-207C>G
XM_017024504.2:c.-5-207C>G XP_016879993.1:n.-5-207C>G
NM_178171.5:c.-5-207C>G MANE Select NP_835465.2:n.-5-207C>G
Search 100 bp 5'
Search 100 bp 3'