Canonical Allele Identifier: CA1695106021
Community Standard Title: NM_001127453.2(GSDME):c.990+75G=
Gene: GSDME HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24708052C= , CM000669.2:g.24708052C= GRCh38
NC_000007.13:g.24747671C= , CM000669.1:g.24747671C= GRCh37
NC_000007.12:g.24714196C= NCBI36
NG_011593.1:g.54969G=

Transcript Alleles

HGVS Amino-acid Change
NM_001127453.2:c.990+75G= MANE Select NP_001120925.1:n.990+75G=
ENST00000645220.1:c.990+75G= MANE Select ENSP00000494186.1:n.990+75G=
NM_001127453.1:c.990+75G= NP_001120925.1:n.990+75G=
NM_001127454.1:c.498+75G= NP_001120926.1:n.498+75G=
NM_001127454.2:c.498+75G= NP_001120926.1:n.498+75G=
NM_004403.2:c.990+75G= NP_004394.1:n.990+75G=
NM_004403.3:c.990+75G= NP_004394.1:n.990+75G=
ENST00000342947.7:c.990+75G= ENSP00000339587.3:n.990+75G=
ENST00000342947.9:c.990+75G= ENSP00000339587.3:n.990+75G=
ENST00000409775.7:c.990+75G= ENSP00000386670.3:n.990+75G=
ENST00000409970.5:c.498+75G= ENSP00000387119.1:n.498+75G=
ENST00000409970.6:c.498+75G= ENSP00000387119.1:n.498+75G=
ENST00000414428.2:c.1065G= ENSP00000413963.2:p.Leu355=
ENST00000415480.5:c.356+75G=
ENST00000419307.5:c.498+75G= ENSP00000401332.1:n.498+75G=
ENST00000419307.6:c.498+75G= ENSP00000401332.1:n.498+75G=
ENST00000446822.5:c.464+75G=
ENST00000446822.6:c.464+75G=
ENST00000469133.1:n.567G=
XM_017011802.1:c.498+75G= XP_016867291.1:n.498+75G=
XM_024446670.1:c.990+75G= XP_024302438.1:n.990+75G=