Canonical Allele Identifier: CA367046849

Gene: GSDME

Linked Data

• dbSNP Id: rs1789092677
• gnomAD v4: 7-24706192-G-A
• MyVariant Identifiers: chr7:g.24745811G>A (hg19) ; chr7:g.24706192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24706192G>A , CM000669.2:g.24706192G>A	GRCh38
NC_000007.13:g.24745811G>A , CM000669.1:g.24745811G>A	GRCh37
NC_000007.12:g.24712336G>A	NCBI36
NG_011593.1:g.56829C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.1175C>T	ENSP00000339587.3:p.Ala392Val
ENST00000409970.6:c.683C>T	ENSP00000387119.1:p.Ala228Val
ENST00000419307.6:c.683C>T	ENSP00000401332.1:p.Ala228Val
ENST00000645220.1:c.1175C>T MANE Select	ENSP00000494186.1:p.Ala392Val
ENST00000342947.7:c.1175C>T	ENSP00000339587.3:p.Ala392Val
ENST00000409775.7:c.1175C>T	ENSP00000386670.3:p.Ala392Val
ENST00000409970.5:c.683C>T	ENSP00000387119.1:p.Ala228Val
ENST00000419307.5:c.683C>T	ENSP00000401332.1:p.Ala228Val
ENST00000430096.1:c.35C>T	ENSP00000395540.1:p.Ala12Val
NM_001127453.1:c.1175C>T	NP_001120925.1:p.Ala392Val
NM_001127454.1:c.683C>T	NP_001120926.1:p.Ala228Val
NM_004403.2:c.1175C>T	NP_004394.1:p.Ala392Val
XM_017011802.1:c.683C>T	XP_016867291.1:p.Ala228Val
XM_024446670.1:c.1175C>T	XP_024302438.1:p.Ala392Val
NM_004403.3:c.1175C>T	NP_004394.1:p.Ala392Val
NM_001127453.2:c.1175C>T MANE Select	NP_001120925.1:p.Ala392Val
NM_001127454.2:c.683C>T	NP_001120926.1:p.Ala228Val