Canonical Allele Identifier: CA2259335348
Gene: GSDMA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39972395C>G , CM000679.2:g.39972395C>G GRCh38
NC_000017.10:g.38128648C>G , CM000679.1:g.38128648C>G GRCh37
NC_000017.9:g.35382174C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.704-192C>G MANE Select ENSP00000301659.4:n.704-192C>G
ENST00000635792.1:c.704-192C>G ENSP00000490739.1:n.704-192C>G
ENST00000301659.8:c.704-192C>G ENSP00000301659.4:n.704-192C>G
NM_178171.4:c.704-192C>G NP_835465.2:n.704-192C>G
XM_006721832.2:c.704-192C>G XP_006721895.1:n.704-192C>G
XM_011524651.1:c.278-192C>G XP_011522953.1:n.278-192C>G
XM_006721832.3:c.704-192C>G XP_006721895.1:n.704-192C>G
XM_011524651.3:c.278-192C>G XP_011522953.1:n.278-192C>G
XM_017024502.2:c.703+219C>G XP_016879991.1:n.703+219C>G
XM_017024503.1:c.704-192C>G XP_016879992.1:n.704-192C>G
XM_017024504.2:c.703+219C>G XP_016879993.1:n.703+219C>G
NM_178171.5:c.704-192C>G MANE Select NP_835465.2:n.704-192C>G