Canonical Allele Identifier: CA367046854

Gene: GSDME

Linked Data

• dbSNP Id: rs1265341688
• gnomAD v3: 7-24706193-C-T
• gnomAD v4: 7-24706193-C-T
• MyVariant Identifiers: chr7:g.24745812C>T (hg19) ; chr7:g.24706193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24706193C>T , CM000669.2:g.24706193C>T	GRCh38
NC_000007.13:g.24745812C>T , CM000669.1:g.24745812C>T	GRCh37
NC_000007.12:g.24712337C>T	NCBI36
NG_011593.1:g.56828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.1174G>A	ENSP00000339587.3:p.Ala392Thr
ENST00000409970.6:c.682G>A	ENSP00000387119.1:p.Ala228Thr
ENST00000419307.6:c.682G>A	ENSP00000401332.1:p.Ala228Thr
ENST00000645220.1:c.1174G>A MANE Select	ENSP00000494186.1:p.Ala392Thr
ENST00000342947.7:c.1174G>A	ENSP00000339587.3:p.Ala392Thr
ENST00000409775.7:c.1174G>A	ENSP00000386670.3:p.Ala392Thr
ENST00000409970.5:c.682G>A	ENSP00000387119.1:p.Ala228Thr
ENST00000419307.5:c.682G>A	ENSP00000401332.1:p.Ala228Thr
ENST00000430096.1:c.34G>A	ENSP00000395540.1:p.Ala12Thr
NM_001127453.1:c.1174G>A	NP_001120925.1:p.Ala392Thr
NM_001127454.1:c.682G>A	NP_001120926.1:p.Ala228Thr
NM_004403.2:c.1174G>A	NP_004394.1:p.Ala392Thr
XM_017011802.1:c.682G>A	XP_016867291.1:p.Ala228Thr
XM_024446670.1:c.1174G>A	XP_024302438.1:p.Ala392Thr
NM_004403.3:c.1174G>A	NP_004394.1:p.Ala392Thr
NM_001127453.2:c.1174G>A MANE Select	NP_001120925.1:p.Ala392Thr
NM_001127454.2:c.682G>A	NP_001120926.1:p.Ala228Thr