Canonical Allele Identifier: CA4191727

Gene: GSDME

Linked Data

• ClinVar Variation Id: 359855
• ClinVar RCV Id: RCV001591025
• dbSNP Id: rs546120306
• ExAC: 7:24758762 C / G
• gnomAD v2: 7-24758762-C-G
• gnomAD v3: 7-24719143-C-G
• gnomAD v4: 7-24719143-C-G
• MyVariant Identifiers: chr7:g.24758762C>G (hg19) ; chr7:g.24719143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24719143C>G , CM000669.2:g.24719143C>G	GRCh38
NC_000007.13:g.24758762C>G , CM000669.1:g.24758762C>G	GRCh37
NC_000007.12:g.24725287C>G	NCBI36
NG_011593.1:g.43878G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.480G>C	ENSP00000339587.3:p.Gln160His
ENST00000409970.6:c.-13G>C	ENSP00000387119.1:n.-13G>C
ENST00000411476.3:n.249G>C
ENST00000414428.2:c.480G>C	ENSP00000413963.2:p.Gln160His
ENST00000419307.6:c.-13G>C	ENSP00000401332.1:n.-13G>C
ENST00000559637.6:n.175G>C
ENST00000645220.1:c.480G>C MANE Select	ENSP00000494186.1:p.Gln160His
ENST00000342947.7:c.480G>C	ENSP00000339587.3:p.Gln160His
ENST00000409775.7:c.480G>C	ENSP00000386670.3:p.Gln160His
ENST00000409970.5:c.-13G>C	ENSP00000387119.1:n.-13G>C
ENST00000411476.2:c.249G>C	ENSP00000414090.2:p.Gln83His
ENST00000414428.1:c.-13G>C	ENSP00000413963.1:n.-13G>C
ENST00000419307.5:c.-13G>C	ENSP00000401332.1:n.-13G>C
ENST00000493723.5:n.499G>C
ENST00000559637.5:n.175G>C
NM_001127453.1:c.480G>C	NP_001120925.1:p.Gln160His
NM_001127454.1:c.-13G>C	NP_001120926.1:n.-13G>C
NM_004403.2:c.480G>C	NP_004394.1:p.Gln160His
XM_017011802.1:c.-13G>C	XP_016867291.1:n.-13G>C
XM_024446670.1:c.480G>C	XP_024302438.1:p.Gln160His
NM_004403.3:c.480G>C	NP_004394.1:p.Gln160His
NM_001127453.2:c.480G>C MANE Select	NP_001120925.1:p.Gln160His
NM_001127454.2:c.-13G>C	NP_001120926.1:n.-13G>C