Canonical Allele Identifier: CA4191734

Gene: GSDME

Linked Data

• ClinVar Variation Id: 523410
• ClinVar RCV Id: RCV000626756 ; RCV001160230
• dbSNP Id: rs148449230
• ExAC: 7:24758786 A / C
• gnomAD v2: 7-24758786-A-C
• gnomAD v3: 7-24719167-A-C
• gnomAD v4: 7-24719167-A-C
• MyVariant Identifiers: chr7:g.24758786A>C (hg19) ; chr7:g.24719167A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24719167A>C , CM000669.2:g.24719167A>C	GRCh38
NC_000007.13:g.24758786A>C , CM000669.1:g.24758786A>C	GRCh37
NC_000007.12:g.24725311A>C	NCBI36
NG_011593.1:g.43854T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.456T>G	ENSP00000339587.3:p.Asn152Lys
ENST00000409970.6:c.-37T>G	ENSP00000387119.1:n.-37T>G
ENST00000411476.3:n.225T>G
ENST00000414428.2:c.456T>G	ENSP00000413963.2:p.Asn152Lys
ENST00000419307.6:c.-37T>G	ENSP00000401332.1:n.-37T>G
ENST00000559637.6:n.151T>G
ENST00000645220.1:c.456T>G MANE Select	ENSP00000494186.1:p.Asn152Lys
ENST00000342947.7:c.456T>G	ENSP00000339587.3:p.Asn152Lys
ENST00000409775.7:c.456T>G	ENSP00000386670.3:p.Asn152Lys
ENST00000409970.5:c.-37T>G	ENSP00000387119.1:n.-37T>G
ENST00000411476.2:c.225T>G	ENSP00000414090.2:p.Asn75Lys
ENST00000414428.1:c.-37T>G	ENSP00000413963.1:n.-37T>G
ENST00000419307.5:c.-37T>G	ENSP00000401332.1:n.-37T>G
ENST00000493723.5:n.475T>G
ENST00000559637.5:n.151T>G
NM_001127453.1:c.456T>G	NP_001120925.1:p.Asn152Lys
NM_001127454.1:c.-37T>G	NP_001120926.1:n.-37T>G
NM_004403.2:c.456T>G	NP_004394.1:p.Asn152Lys
XM_017011802.1:c.-37T>G	XP_016867291.1:n.-37T>G
XM_024446670.1:c.456T>G	XP_024302438.1:p.Asn152Lys
NM_004403.3:c.456T>G	NP_004394.1:p.Asn152Lys
NM_001127453.2:c.456T>G MANE Select	NP_001120925.1:p.Asn152Lys
NM_001127454.2:c.-37T>G	NP_001120926.1:n.-37T>G