Canonical Allele Identifier: CA248781

Gene: GSDME

Linked Data

• ClinVar Variation Id: 178333
• ClinVar RCV Id: RCV000155077 ; RCV000274170 ; RCV000952918
• dbSNP Id: rs140666247
• ExAC: 7:24756912 C / T
• gnomAD v2: 7-24756912-C-T
• gnomAD v3: 7-24717293-C-T
• gnomAD v4: 7-24717293-C-T
• COSMIC: COSM1088698
• MyVariant Identifiers: chr7:g.24756912C>T (hg19) ; chr7:g.24717293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24717293C>T , CM000669.2:g.24717293C>T	GRCh38
NC_000007.13:g.24756912C>T , CM000669.1:g.24756912C>T	GRCh37
NC_000007.12:g.24723437C>T	NCBI36
NG_011593.1:g.45728G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.658G>A	ENSP00000339587.3:p.Gly220Ser
ENST00000409970.6:c.166G>A	ENSP00000387119.1:p.Gly56Ser
ENST00000411476.3:n.427G>A
ENST00000414428.2:c.658G>A	ENSP00000413963.2:p.Gly220Ser
ENST00000419307.6:c.166G>A	ENSP00000401332.1:p.Gly56Ser
ENST00000446822.6:c.132G>A
ENST00000559637.6:n.353G>A
ENST00000645220.1:c.658G>A MANE Select	ENSP00000494186.1:p.Gly220Ser
ENST00000342947.7:c.658G>A	ENSP00000339587.3:p.Gly220Ser
ENST00000409775.7:c.658G>A	ENSP00000386670.3:p.Gly220Ser
ENST00000409970.5:c.166G>A	ENSP00000387119.1:p.Gly56Ser
ENST00000411476.2:c.427G>A	ENSP00000414090.2:p.Gly143Ser
ENST00000415480.5:c.24G>A
ENST00000419307.5:c.166G>A	ENSP00000401332.1:p.Gly56Ser
ENST00000446822.5:c.132G>A
ENST00000493723.5:n.677G>A
ENST00000559637.5:n.353G>A
NM_001127453.1:c.658G>A	NP_001120925.1:p.Gly220Ser
NM_001127454.1:c.166G>A	NP_001120926.1:p.Gly56Ser
NM_004403.2:c.658G>A	NP_004394.1:p.Gly220Ser
XM_017011802.1:c.166G>A	XP_016867291.1:p.Gly56Ser
XM_024446670.1:c.658G>A	XP_024302438.1:p.Gly220Ser
NM_004403.3:c.658G>A	NP_004394.1:p.Gly220Ser
NM_001127453.2:c.658G>A MANE Select	NP_001120925.1:p.Gly220Ser
NM_001127454.2:c.166G>A	NP_001120926.1:p.Gly56Ser