Canonical Allele Identifier: CA2682077555

Gene: GSDME

Linked Data

• gnomAD v4: 7-24698785-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698785T>G , CM000669.2:g.24698785T>G	GRCh38
NC_000007.13:g.24738404T>G , CM000669.1:g.24738404T>G	GRCh37
NC_000007.12:g.24704929T>G	NCBI36
NG_011593.1:g.64236A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.*241A>C	ENSP00000339587.3:n.*241A>C
ENST00000409970.6:c.*241A>C	ENSP00000387119.1:n.*241A>C
ENST00000419307.6:c.*241A>C	ENSP00000401332.1:n.*241A>C
ENST00000645220.1:c.*241A>C MANE Select	ENSP00000494186.1:n.*241A>C
ENST00000342947.7:c.*241A>C	ENSP00000339587.3:n.*241A>C
ENST00000409970.5:c.*241A>C	ENSP00000387119.1:n.*241A>C
ENST00000419307.5:c.*241A>C	ENSP00000401332.1:n.*241A>C
ENST00000479636.1:n.3753A>C
NM_001127453.1:c.*241A>C	NP_001120925.1:n.*241A>C
NM_001127454.1:c.*241A>C	NP_001120926.1:n.*241A>C
NM_004403.2:c.*241A>C	NP_004394.1:n.*241A>C
XM_017011802.1:c.*241A>C	XP_016867291.1:n.*241A>C
XM_024446670.1:c.*241A>C	XP_024302438.1:n.*241A>C
NM_004403.3:c.*241A>C	NP_004394.1:n.*241A>C
NM_001127453.2:c.*241A>C MANE Select	NP_001120925.1:n.*241A>C
NM_001127454.2:c.*241A>C	NP_001120926.1:n.*241A>C