Canonical Allele Identifier: CA367047008

Gene: GSDME

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24706265G>C , CM000669.2:g.24706265G>C	GRCh38
NC_000007.13:g.24745884G>C , CM000669.1:g.24745884G>C	GRCh37
NC_000007.12:g.24712409G>C	NCBI36
NG_011593.1:g.56756C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127453.2:c.1102C>G MANE Select	NP_001120925.1:p.Gln368Glu
ENST00000645220.1:c.1102C>G MANE Select	ENSP00000494186.1:p.Gln368Glu
NM_001127453.1:c.1102C>G	NP_001120925.1:p.Gln368Glu
NM_001127454.1:c.610C>G	NP_001120926.1:p.Gln204Glu
NM_001127454.2:c.610C>G	NP_001120926.1:p.Gln204Glu
NM_004403.2:c.1102C>G	NP_004394.1:p.Gln368Glu
NM_004403.3:c.1102C>G	NP_004394.1:p.Gln368Glu
ENST00000342947.7:c.1102C>G	ENSP00000339587.3:p.Gln368Glu
ENST00000342947.9:c.1102C>G	ENSP00000339587.3:p.Gln368Glu
ENST00000409775.7:c.1102C>G	ENSP00000386670.3:p.Gln368Glu
ENST00000409970.5:c.610C>G	ENSP00000387119.1:p.Gln204Glu
ENST00000409970.6:c.610C>G	ENSP00000387119.1:p.Gln204Glu
ENST00000419307.5:c.610C>G	ENSP00000401332.1:p.Gln204Glu
ENST00000419307.6:c.610C>G	ENSP00000401332.1:p.Gln204Glu
XM_017011802.1:c.610C>G	XP_016867291.1:p.Gln204Glu
XM_024446670.1:c.1102C>G	XP_024302438.1:p.Gln368Glu