Canonical Allele Identifier: CA2682077460

Gene: GSDME

Linked Data

• gnomAD v4: 7-24698600-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698600A>C , CM000669.2:g.24698600A>C	GRCh38
NC_000007.13:g.24738219A>C , CM000669.1:g.24738219A>C	GRCh37
NC_000007.12:g.24704744A>C	NCBI36
NG_011593.1:g.64421T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.*426T>G	ENSP00000339587.3:n.*426T>G
ENST00000409970.6:c.*426T>G	ENSP00000387119.1:n.*426T>G
ENST00000419307.6:c.*426T>G	ENSP00000401332.1:n.*426T>G
ENST00000645220.1:c.*426T>G MANE Select	ENSP00000494186.1:n.*426T>G
ENST00000342947.7:c.*426T>G	ENSP00000339587.3:n.*426T>G
ENST00000409970.5:c.*426T>G	ENSP00000387119.1:n.*426T>G
ENST00000419307.5:c.*426T>G	ENSP00000401332.1:n.*426T>G
ENST00000479636.1:n.3938T>G
NM_001127453.1:c.*426T>G	NP_001120925.1:n.*426T>G
NM_001127454.1:c.*426T>G	NP_001120926.1:n.*426T>G
NM_004403.2:c.*426T>G	NP_004394.1:n.*426T>G
XM_017011802.1:c.*426T>G	XP_016867291.1:n.*426T>G
XM_024446670.1:c.*426T>G	XP_024302438.1:n.*426T>G
NM_004403.3:c.*426T>G	NP_004394.1:n.*426T>G
NM_001127453.2:c.*426T>G MANE Select	NP_001120925.1:n.*426T>G
NM_001127454.2:c.*426T>G	NP_001120926.1:n.*426T>G