Canonical Allele Identifier: CA2774756257
Gene: GSDME HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24706106T>G , CM000669.2:g.24706106T>G GRCh38
NC_000007.13:g.24745725T>G , CM000669.1:g.24745725T>G GRCh37
NC_000007.12:g.24712250T>G NCBI36
NG_011593.1:g.56915A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342947.9:c.1183+78A>C ENSP00000339587.3:n.1183+78A>C
ENST00000409970.6:c.691+78A>C ENSP00000387119.1:n.691+78A>C
ENST00000419307.6:c.691+78A>C ENSP00000401332.1:n.691+78A>C
ENST00000645220.1:c.1183+78A>C MANE Select ENSP00000494186.1:n.1183+78A>C
ENST00000342947.7:c.1183+78A>C ENSP00000339587.3:n.1183+78A>C
ENST00000409775.7:c.1183+78A>C ENSP00000386670.3:n.1183+78A>C
ENST00000409970.5:c.691+78A>C ENSP00000387119.1:n.691+78A>C
ENST00000419307.5:c.691+78A>C ENSP00000401332.1:n.691+78A>C
ENST00000430096.1:c.43+78A>C ENSP00000395540.1:n.43+78A>C
NM_001127453.1:c.1183+78A>C NP_001120925.1:n.1183+78A>C
NM_001127454.1:c.691+78A>C NP_001120926.1:n.691+78A>C
NM_004403.2:c.1183+78A>C NP_004394.1:n.1183+78A>C
XM_017011802.1:c.691+78A>C XP_016867291.1:n.691+78A>C
XM_024446670.1:c.1183+78A>C XP_024302438.1:n.1183+78A>C
NM_004403.3:c.1183+78A>C NP_004394.1:n.1183+78A>C
NM_001127453.2:c.1183+78A>C MANE Select NP_001120925.1:n.1183+78A>C
NM_001127454.2:c.691+78A>C NP_001120926.1:n.691+78A>C