Canonical Allele Identifier: CA367047975

Gene: GSDME

Linked Data

• MyVariant Identifiers: chr7:g.24756924T>C (hg19) ; chr7:g.24717305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24717305T>C , CM000669.2:g.24717305T>C	GRCh38
NC_000007.13:g.24756924T>C , CM000669.1:g.24756924T>C	GRCh37
NC_000007.12:g.24723449T>C	NCBI36
NG_011593.1:g.45716A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.646A>G	ENSP00000339587.3:p.Thr216Ala
ENST00000409970.6:c.154A>G	ENSP00000387119.1:p.Thr52Ala
ENST00000411476.3:n.415A>G
ENST00000414428.2:c.646A>G	ENSP00000413963.2:p.Thr216Ala
ENST00000419307.6:c.154A>G	ENSP00000401332.1:p.Thr52Ala
ENST00000446822.6:c.120A>G
ENST00000559637.6:n.341A>G
ENST00000645220.1:c.646A>G MANE Select	ENSP00000494186.1:p.Thr216Ala
ENST00000342947.7:c.646A>G	ENSP00000339587.3:p.Thr216Ala
ENST00000409775.7:c.646A>G	ENSP00000386670.3:p.Thr216Ala
ENST00000409970.5:c.154A>G	ENSP00000387119.1:p.Thr52Ala
ENST00000411476.2:c.415A>G	ENSP00000414090.2:p.Thr139Ala
ENST00000415480.5:c.12A>G
ENST00000419307.5:c.154A>G	ENSP00000401332.1:p.Thr52Ala
ENST00000446822.5:c.120A>G
ENST00000493723.5:n.665A>G
ENST00000559637.5:n.341A>G
NM_001127453.1:c.646A>G	NP_001120925.1:p.Thr216Ala
NM_001127454.1:c.154A>G	NP_001120926.1:p.Thr52Ala
NM_004403.2:c.646A>G	NP_004394.1:p.Thr216Ala
XM_017011802.1:c.154A>G	XP_016867291.1:p.Thr52Ala
XM_024446670.1:c.646A>G	XP_024302438.1:p.Thr216Ala
NM_004403.3:c.646A>G	NP_004394.1:p.Thr216Ala
NM_001127453.2:c.646A>G MANE Select	NP_001120925.1:p.Thr216Ala
NM_001127454.2:c.154A>G	NP_001120926.1:p.Thr52Ala