Canonical Allele Identifier: CA135154

Gene: GSDME

Linked Data

• ClinVar Variation Id: 44838
• ClinVar RCV Id: RCV000037969 ; RCV000287752 ; RCV000897998 ; RCV003924922
• dbSNP Id: rs397516910
• ExAC: 7:24745794 T / A
• gnomAD v2: 7-24745794-T-A
• gnomAD v3: 7-24706175-T-A
• gnomAD v4: 7-24706175-T-A
• MyVariant Identifiers: chr7:g.24745794T>A (hg19) ; chr7:g.24706175T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24706175T>A , CM000669.2:g.24706175T>A	GRCh38
NC_000007.13:g.24745794T>A , CM000669.1:g.24745794T>A	GRCh37
NC_000007.12:g.24712319T>A	NCBI36
NG_011593.1:g.56846A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.1183+9A>T	ENSP00000339587.3:n.1183+9A>T
ENST00000409970.6:c.691+9A>T	ENSP00000387119.1:n.691+9A>T
ENST00000419307.6:c.691+9A>T	ENSP00000401332.1:n.691+9A>T
ENST00000645220.1:c.1183+9A>T MANE Select	ENSP00000494186.1:n.1183+9A>T
ENST00000342947.7:c.1183+9A>T	ENSP00000339587.3:n.1183+9A>T
ENST00000409775.7:c.1183+9A>T	ENSP00000386670.3:n.1183+9A>T
ENST00000409970.5:c.691+9A>T	ENSP00000387119.1:n.691+9A>T
ENST00000419307.5:c.691+9A>T	ENSP00000401332.1:n.691+9A>T
ENST00000430096.1:c.43+9A>T	ENSP00000395540.1:n.43+9A>T
NM_001127453.1:c.1183+9A>T	NP_001120925.1:n.1183+9A>T
NM_001127454.1:c.691+9A>T	NP_001120926.1:n.691+9A>T
NM_004403.2:c.1183+9A>T	NP_004394.1:n.1183+9A>T
XM_017011802.1:c.691+9A>T	XP_016867291.1:n.691+9A>T
XM_024446670.1:c.1183+9A>T	XP_024302438.1:n.1183+9A>T
NM_004403.3:c.1183+9A>T	NP_004394.1:n.1183+9A>T
NM_001127453.2:c.1183+9A>T MANE Select	NP_001120925.1:n.1183+9A>T
NM_001127454.2:c.691+9A>T	NP_001120926.1:n.691+9A>T