Canonical Allele Identifier: CA135169

Gene: GSDME

Linked Data

• ClinVar Variation Id: 44847
• ClinVar RCV Id: RCV000037978 ; RCV000329308 ; RCV002228130
• dbSNP Id: rs12540919
• ExAC: 7:24756951 C / T
• gnomAD v2: 7-24756951-C-T
• gnomAD v3: 7-24717332-C-T
• gnomAD v4: 7-24717332-C-T
• MyVariant Identifiers: chr7:g.24756951C>T (hg19) ; chr7:g.24717332C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24717332C>T , CM000669.2:g.24717332C>T	GRCh38
NC_000007.13:g.24756951C>T , CM000669.1:g.24756951C>T	GRCh37
NC_000007.12:g.24723476C>T	NCBI36
NG_011593.1:g.45689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.619G>A	ENSP00000339587.3:p.Val207Met
ENST00000409970.6:c.127G>A	ENSP00000387119.1:p.Val43Met
ENST00000411476.3:n.388G>A
ENST00000414428.2:c.619G>A	ENSP00000413963.2:p.Val207Met
ENST00000419307.6:c.127G>A	ENSP00000401332.1:p.Val43Met
ENST00000446822.6:c.93G>A
ENST00000559637.6:n.314G>A
ENST00000645220.1:c.619G>A MANE Select	ENSP00000494186.1:p.Val207Met
ENST00000342947.7:c.619G>A	ENSP00000339587.3:p.Val207Met
ENST00000409775.7:c.619G>A	ENSP00000386670.3:p.Val207Met
ENST00000409970.5:c.127G>A	ENSP00000387119.1:p.Val43Met
ENST00000411476.2:c.388G>A	ENSP00000414090.2:p.Val130Met
ENST00000419307.5:c.127G>A	ENSP00000401332.1:p.Val43Met
ENST00000446822.5:c.93G>A
ENST00000493723.5:n.638G>A
ENST00000559637.5:n.314G>A
NM_001127453.1:c.619G>A	NP_001120925.1:p.Val207Met
NM_001127454.1:c.127G>A	NP_001120926.1:p.Val43Met
NM_004403.2:c.619G>A	NP_004394.1:p.Val207Met
XM_017011802.1:c.127G>A	XP_016867291.1:p.Val43Met
XM_024446670.1:c.619G>A	XP_024302438.1:p.Val207Met
NM_004403.3:c.619G>A	NP_004394.1:p.Val207Met
NM_001127453.2:c.619G>A MANE Select	NP_001120925.1:p.Val207Met
NM_001127454.2:c.127G>A	NP_001120926.1:p.Val43Met