Canonical Allele Identifier: CA10625871

Gene: GSDME

Linked Data

• ClinVar Variation Id: 359825
• ClinVar RCV Id: RCV000292870
• dbSNP Id: rs12979
• gnomAD v2: 7-24738164-C-G
• gnomAD v3: 7-24698545-C-G
• gnomAD v4: 7-24698545-C-G
• MyVariant Identifiers: chr7:g.24738164C>G (hg19) ; chr7:g.24698545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698545C>G , CM000669.2:g.24698545C>G	GRCh38
NC_000007.13:g.24738164C>G , CM000669.1:g.24738164C>G	GRCh37
NC_000007.12:g.24704689C>G	NCBI36
NG_011593.1:g.64476G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.*481G>C	ENSP00000339587.3:n.*481G>C
ENST00000409970.6:c.*481G>C	ENSP00000387119.1:n.*481G>C
ENST00000419307.6:c.*481G>C	ENSP00000401332.1:n.*481G>C
ENST00000645220.1:c.*481G>C MANE Select	ENSP00000494186.1:n.*481G>C
ENST00000342947.7:c.*481G>C	ENSP00000339587.3:n.*481G>C
ENST00000409970.5:c.*481G>C	ENSP00000387119.1:n.*481G>C
ENST00000419307.5:c.*481G>C	ENSP00000401332.1:n.*481G>C
ENST00000479636.1:n.3993G>C
NM_001127453.1:c.*481G>C	NP_001120925.1:n.*481G>C
NM_001127454.1:c.*481G>C	NP_001120926.1:n.*481G>C
NM_004403.2:c.*481G>C	NP_004394.1:n.*481G>C
XM_017011802.1:c.*481G>C	XP_016867291.1:n.*481G>C
XM_024446670.1:c.*481G>C	XP_024302438.1:n.*481G>C
NM_004403.3:c.*481G>C	NP_004394.1:n.*481G>C
NM_001127453.2:c.*481G>C MANE Select	NP_001120925.1:n.*481G>C
NM_001127454.2:c.*481G>C	NP_001120926.1:n.*481G>C