Canonical Allele Identifier: CA155367964

Gene: GSDME

Linked Data

• dbSNP Id: rs886772689
• gnomAD v2: 7-24738387-T-C
• gnomAD v3: 7-24698768-T-C
• gnomAD v4: 7-24698768-T-C
• MyVariant Identifiers: chr7:g.24738387T>C (hg19) ; chr7:g.24698768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698768T>C , CM000669.2:g.24698768T>C	GRCh38
NC_000007.13:g.24738387T>C , CM000669.1:g.24738387T>C	GRCh37
NC_000007.12:g.24704912T>C	NCBI36
NG_011593.1:g.64253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.*258A>G	ENSP00000339587.3:n.*258A>G
ENST00000409970.6:c.*258A>G	ENSP00000387119.1:n.*258A>G
ENST00000419307.6:c.*258A>G	ENSP00000401332.1:n.*258A>G
ENST00000645220.1:c.*258A>G MANE Select	ENSP00000494186.1:n.*258A>G
ENST00000342947.7:c.*258A>G	ENSP00000339587.3:n.*258A>G
ENST00000409970.5:c.*258A>G	ENSP00000387119.1:n.*258A>G
ENST00000419307.5:c.*258A>G	ENSP00000401332.1:n.*258A>G
ENST00000479636.1:n.3770A>G
NM_001127453.1:c.*258A>G	NP_001120925.1:n.*258A>G
NM_001127454.1:c.*258A>G	NP_001120926.1:n.*258A>G
NM_004403.2:c.*258A>G	NP_004394.1:n.*258A>G
XM_017011802.1:c.*258A>G	XP_016867291.1:n.*258A>G
XM_024446670.1:c.*258A>G	XP_024302438.1:n.*258A>G
NM_004403.3:c.*258A>G	NP_004394.1:n.*258A>G
NM_001127453.2:c.*258A>G MANE Select	NP_001120925.1:n.*258A>G
NM_001127454.2:c.*258A>G	NP_001120926.1:n.*258A>G