Canonical Allele Identifier: CA454021266

Gene: GSDME

Linked Data

• MyVariant Identifiers: chr7:g.24756916G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24717297G>C , CM000669.2:g.24717297G>C	GRCh38
NC_000007.13:g.24756916G>C , CM000669.1:g.24756916G>C	GRCh37
NC_000007.12:g.24723441G>C	NCBI36
NG_011593.1:g.45724C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.654C>G	ENSP00000339587.3:p.Ala218=
ENST00000409970.6:c.162C>G	ENSP00000387119.1:p.Ala54=
ENST00000411476.3:n.423C>G
ENST00000414428.2:c.654C>G	ENSP00000413963.2:p.Ala218=
ENST00000419307.6:c.162C>G	ENSP00000401332.1:p.Ala54=
ENST00000446822.6:c.128C>G
ENST00000559637.6:n.349C>G
ENST00000645220.1:c.654C>G MANE Select	ENSP00000494186.1:p.Ala218=
ENST00000342947.7:c.654C>G	ENSP00000339587.3:p.Ala218=
ENST00000409775.7:c.654C>G	ENSP00000386670.3:p.Ala218=
ENST00000409970.5:c.162C>G	ENSP00000387119.1:p.Ala54=
ENST00000411476.2:c.423C>G	ENSP00000414090.2:p.Ala141=
ENST00000415480.5:c.20C>G
ENST00000419307.5:c.162C>G	ENSP00000401332.1:p.Ala54=
ENST00000446822.5:c.128C>G
ENST00000493723.5:n.673C>G
ENST00000559637.5:n.349C>G
NM_001127453.1:c.654C>G	NP_001120925.1:p.Ala218=
NM_001127454.1:c.162C>G	NP_001120926.1:p.Ala54=
NM_004403.2:c.654C>G	NP_004394.1:p.Ala218=
XM_017011802.1:c.162C>G	XP_016867291.1:p.Ala54=
XM_024446670.1:c.654C>G	XP_024302438.1:p.Ala218=
NM_004403.3:c.654C>G	NP_004394.1:p.Ala218=
NM_001127453.2:c.654C>G MANE Select	NP_001120925.1:p.Ala218=
NM_001127454.2:c.162C>G	NP_001120926.1:p.Ala54=