Canonical Allele Identifier: CA4191357

Gene: GSDME

Linked Data

• ClinVar Variation Id: 517175
• ClinVar RCV Id: RCV000611135 ; RCV000897752 ; RCV001160131
• dbSNP Id: rs199971778
• ExAC: 7:24742428 A / G
• gnomAD v2: 7-24742428-A-G
• gnomAD v3: 7-24702809-A-G
• gnomAD v4: 7-24702809-A-G
• MyVariant Identifiers: chr7:g.24742428A>G (hg19) ; chr7:g.24702809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24702809A>G , CM000669.2:g.24702809A>G	GRCh38
NC_000007.13:g.24742428A>G , CM000669.1:g.24742428A>G	GRCh37
NC_000007.12:g.24708953A>G	NCBI36
NG_011593.1:g.60212T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.1208T>C	ENSP00000339587.3:p.Leu403Pro
ENST00000409970.6:c.716T>C	ENSP00000387119.1:p.Leu239Pro
ENST00000419307.6:c.716T>C	ENSP00000401332.1:p.Leu239Pro
ENST00000645220.1:c.1208T>C MANE Select	ENSP00000494186.1:p.Leu403Pro
ENST00000342947.7:c.1208T>C	ENSP00000339587.3:p.Leu403Pro
ENST00000409775.7:c.1208T>C	ENSP00000386670.3:p.Leu403Pro
ENST00000409970.5:c.716T>C	ENSP00000387119.1:p.Leu239Pro
ENST00000419307.5:c.716T>C	ENSP00000401332.1:p.Leu239Pro
ENST00000430096.1:c.68T>C	ENSP00000395540.1:p.Leu23Pro
ENST00000479636.1:n.3229T>C
NM_001127453.1:c.1208T>C	NP_001120925.1:p.Leu403Pro
NM_001127454.1:c.716T>C	NP_001120926.1:p.Leu239Pro
NM_004403.2:c.1208T>C	NP_004394.1:p.Leu403Pro
XM_017011802.1:c.716T>C	XP_016867291.1:p.Leu239Pro
XM_024446670.1:c.1208T>C	XP_024302438.1:p.Leu403Pro
NM_004403.3:c.1208T>C	NP_004394.1:p.Leu403Pro
NM_001127453.2:c.1208T>C MANE Select	NP_001120925.1:p.Leu403Pro
NM_001127454.2:c.716T>C	NP_001120926.1:p.Leu239Pro