Canonical Allele Identifier: CA367046833

Gene: GSDME

Linked Data

• ClinVar Variation Id: 493450
• ClinVar RCV Id: RCV000585207
• dbSNP Id: rs1554322596
• gnomAD v3: 7-24706183-C-T
• gnomAD v4: 7-24706183-C-T
• MyVariant Identifiers: chr7:g.24745802C>T (hg19) ; chr7:g.24706183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24706183C>T , CM000669.2:g.24706183C>T	GRCh38
NC_000007.13:g.24745802C>T , CM000669.1:g.24745802C>T	GRCh37
NC_000007.12:g.24712327C>T	NCBI36
NG_011593.1:g.56838G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.1183+1G>A	ENSP00000339587.3:n.1183+1G>A
ENST00000409970.6:c.691+1G>A	ENSP00000387119.1:n.691+1G>A
ENST00000419307.6:c.691+1G>A	ENSP00000401332.1:n.691+1G>A
ENST00000645220.1:c.1183+1G>A MANE Select	ENSP00000494186.1:n.1183+1G>A
ENST00000342947.7:c.1183+1G>A	ENSP00000339587.3:n.1183+1G>A
ENST00000409775.7:c.1183+1G>A	ENSP00000386670.3:n.1183+1G>A
ENST00000409970.5:c.691+1G>A	ENSP00000387119.1:n.691+1G>A
ENST00000419307.5:c.691+1G>A	ENSP00000401332.1:n.691+1G>A
ENST00000430096.1:c.43+1G>A	ENSP00000395540.1:n.43+1G>A
NM_001127453.1:c.1183+1G>A	NP_001120925.1:n.1183+1G>A
NM_001127454.1:c.691+1G>A	NP_001120926.1:n.691+1G>A
NM_004403.2:c.1183+1G>A	NP_004394.1:n.1183+1G>A
XM_017011802.1:c.691+1G>A	XP_016867291.1:n.691+1G>A
XM_024446670.1:c.1183+1G>A	XP_024302438.1:n.1183+1G>A
NM_004403.3:c.1183+1G>A	NP_004394.1:n.1183+1G>A
NM_001127453.2:c.1183+1G>A MANE Select	NP_001120925.1:n.1183+1G>A
NM_001127454.2:c.691+1G>A	NP_001120926.1:n.691+1G>A