Canonical Allele Identifier: CA12500804

Gene: GSDME

Linked Data

• dbSNP Id: rs2521758
• gnomAD v2: 7-24762292-G-T
• gnomAD v3: 7-24722673-G-T
• gnomAD v4: 7-24722673-G-T
• MyVariant Identifiers: chr7:g.24762292G>T (hg19) ; chr7:g.24722673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24722673G>T , CM000669.2:g.24722673G>T	GRCh38
NC_000007.13:g.24762292G>T , CM000669.1:g.24762292G>T	GRCh37
NC_000007.12:g.24728817G>T	NCBI36
NG_011593.1:g.40348C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.405-3455C>A	ENSP00000339587.3:n.405-3455C>A
ENST00000409970.6:c.-88-3455C>A	ENSP00000387119.1:n.-88-3455C>A
ENST00000411476.3:n.174-3455C>A
ENST00000414428.2:c.405-3455C>A	ENSP00000413963.2:n.405-3455C>A
ENST00000419307.6:c.-88-3455C>A	ENSP00000401332.1:n.-88-3455C>A
ENST00000559637.6:n.99+2013C>A
ENST00000645220.1:c.405-3455C>A MANE Select	ENSP00000494186.1:n.405-3455C>A
ENST00000342947.7:c.405-3455C>A	ENSP00000339587.3:n.405-3455C>A
ENST00000409775.7:c.405-3455C>A	ENSP00000386670.3:n.405-3455C>A
ENST00000409970.5:c.-88-3455C>A	ENSP00000387119.1:n.-88-3455C>A
ENST00000411476.2:c.174-3455C>A	ENSP00000414090.2:n.174-3455C>A
ENST00000414428.1:c.-88-3455C>A	ENSP00000413963.1:n.-88-3455C>A
ENST00000419307.5:c.-88-3455C>A	ENSP00000401332.1:n.-88-3455C>A
ENST00000493723.5:n.424-3455C>A
ENST00000559637.5:n.99+2013C>A
NM_001127453.1:c.405-3455C>A	NP_001120925.1:n.405-3455C>A
NM_001127454.1:c.-88-3455C>A	NP_001120926.1:n.-88-3455C>A
NM_004403.2:c.405-3455C>A	NP_004394.1:n.405-3455C>A
XM_017011802.1:c.-88-3455C>A	XP_016867291.1:n.-88-3455C>A
XM_024446670.1:c.405-3455C>A	XP_024302438.1:n.405-3455C>A
NM_004403.3:c.405-3455C>A	NP_004394.1:n.405-3455C>A
NM_001127453.2:c.405-3455C>A MANE Select	NP_001120925.1:n.405-3455C>A
NM_001127454.2:c.-88-3455C>A	NP_001120926.1:n.-88-3455C>A