Canonical Allele Identifier: CA1695069093
Gene: GSDME HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24717294G= , CM000669.2:g.24717294G= GRCh38
NC_000007.13:g.24756913G= , CM000669.1:g.24756913G= GRCh37
NC_000007.12:g.24723438G= NCBI36
NG_011593.1:g.45727C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342947.9:c.657C= ENSP00000339587.3:p.Tyr219=
ENST00000409970.6:c.165C= ENSP00000387119.1:p.Tyr55=
ENST00000411476.3:n.426C=
ENST00000414428.2:c.657C= ENSP00000413963.2:p.Tyr219=
ENST00000419307.6:c.165C= ENSP00000401332.1:p.Tyr55=
ENST00000446822.6:c.131C=
ENST00000559637.6:n.352C=
ENST00000645220.1:c.657C= MANE Select ENSP00000494186.1:p.Tyr219=
ENST00000342947.7:c.657C= ENSP00000339587.3:p.Tyr219=
ENST00000409775.7:c.657C= ENSP00000386670.3:p.Tyr219=
ENST00000409970.5:c.165C= ENSP00000387119.1:p.Tyr55=
ENST00000411476.2:c.426C= ENSP00000414090.2:p.Tyr142=
ENST00000415480.5:c.23C=
ENST00000419307.5:c.165C= ENSP00000401332.1:p.Tyr55=
ENST00000446822.5:c.131C=
ENST00000493723.5:n.676C=
ENST00000559637.5:n.352C=
NM_001127453.1:c.657C= NP_001120925.1:p.Tyr219=
NM_001127454.1:c.165C= NP_001120926.1:p.Tyr55=
NM_004403.2:c.657C= NP_004394.1:p.Tyr219=
XM_017011802.1:c.165C= XP_016867291.1:p.Tyr55=
XM_024446670.1:c.657C= XP_024302438.1:p.Tyr219=
NM_004403.3:c.657C= NP_004394.1:p.Tyr219=
NM_001127453.2:c.657C= MANE Select NP_001120925.1:p.Tyr219=
NM_001127454.2:c.165C= NP_001120926.1:p.Tyr55=