Canonical Allele Identifier: CA836952453
Gene: GSDME HGNC NCBI

Linked Data

dbSNP Id: rs1337994770
gnomAD v3: 7-24698601-C-T
gnomAD v4: 7-24698601-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24698601C>T , CM000669.2:g.24698601C>T GRCh38
NC_000007.13:g.24738220C>T , CM000669.1:g.24738220C>T GRCh37
NC_000007.12:g.24704745C>T NCBI36
NG_011593.1:g.64420G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342947.9:c.*425G>A ENSP00000339587.3:n.*425G>A
ENST00000409970.6:c.*425G>A ENSP00000387119.1:n.*425G>A
ENST00000419307.6:c.*425G>A ENSP00000401332.1:n.*425G>A
ENST00000645220.1:c.*425G>A MANE Select ENSP00000494186.1:n.*425G>A
ENST00000342947.7:c.*425G>A ENSP00000339587.3:n.*425G>A
ENST00000409970.5:c.*425G>A ENSP00000387119.1:n.*425G>A
ENST00000419307.5:c.*425G>A ENSP00000401332.1:n.*425G>A
ENST00000479636.1:n.3937G>A
NM_001127453.1:c.*425G>A NP_001120925.1:n.*425G>A
NM_001127454.1:c.*425G>A NP_001120926.1:n.*425G>A
NM_004403.2:c.*425G>A NP_004394.1:n.*425G>A
XM_017011802.1:c.*425G>A XP_016867291.1:n.*425G>A
XM_024446670.1:c.*425G>A XP_024302438.1:n.*425G>A
NM_004403.3:c.*425G>A NP_004394.1:n.*425G>A
NM_001127453.2:c.*425G>A MANE Select NP_001120925.1:n.*425G>A
NM_001127454.2:c.*425G>A NP_001120926.1:n.*425G>A