Canonical Allele Identifier: CA4191716

Gene: GSDME

Linked Data

• dbSNP Id: rs766327140
• ExAC: 7:24758725 G / A
• gnomAD v2: 7-24758725-G-A
• gnomAD v4: 7-24719106-G-A
• MyVariant Identifiers: chr7:g.24758725G>A (hg19) ; chr7:g.24719106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24719106G>A , CM000669.2:g.24719106G>A	GRCh38
NC_000007.13:g.24758725G>A , CM000669.1:g.24758725G>A	GRCh37
NC_000007.12:g.24725250G>A	NCBI36
NG_011593.1:g.43915C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.517C>T	ENSP00000339587.3:p.His173Tyr
ENST00000409970.6:c.25C>T	ENSP00000387119.1:p.His9Tyr
ENST00000411476.3:n.286C>T
ENST00000414428.2:c.517C>T	ENSP00000413963.2:p.His173Tyr
ENST00000419307.6:c.25C>T	ENSP00000401332.1:p.His9Tyr
ENST00000559637.6:n.212C>T
ENST00000645220.1:c.517C>T MANE Select	ENSP00000494186.1:p.His173Tyr
ENST00000342947.7:c.517C>T	ENSP00000339587.3:p.His173Tyr
ENST00000409775.7:c.517C>T	ENSP00000386670.3:p.His173Tyr
ENST00000409970.5:c.25C>T	ENSP00000387119.1:p.His9Tyr
ENST00000411476.2:c.286C>T	ENSP00000414090.2:p.His96Tyr
ENST00000414428.1:c.25C>T	ENSP00000413963.1:p.His9Tyr
ENST00000419307.5:c.25C>T	ENSP00000401332.1:p.His9Tyr
ENST00000493723.5:n.536C>T
ENST00000559637.5:n.212C>T
NM_001127453.1:c.517C>T	NP_001120925.1:p.His173Tyr
NM_001127454.1:c.25C>T	NP_001120926.1:p.His9Tyr
NM_004403.2:c.517C>T	NP_004394.1:p.His173Tyr
XM_017011802.1:c.25C>T	XP_016867291.1:p.His9Tyr
XM_024446670.1:c.517C>T	XP_024302438.1:p.His173Tyr
NM_004403.3:c.517C>T	NP_004394.1:p.His173Tyr
NM_001127453.2:c.517C>T MANE Select	NP_001120925.1:p.His173Tyr
NM_001127454.2:c.25C>T	NP_001120926.1:p.His9Tyr