Canonical Allele Identifier: CA135168

Gene: GSDME

Linked Data

• ClinVar Variation Id: 44846
• ClinVar RCV Id: RCV000037977 ; RCV000379663 ; RCV001582511
• dbSNP Id: rs11970787
• ExAC: 7:24757008 G / A
• gnomAD v2: 7-24757008-G-A
• gnomAD v3: 7-24717389-G-A
• gnomAD v4: 7-24717389-G-A
• MyVariant Identifiers: chr7:g.24757008G>A (hg19) ; chr7:g.24717389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24717389G>A , CM000669.2:g.24717389G>A	GRCh38
NC_000007.13:g.24757008G>A , CM000669.1:g.24757008G>A	GRCh37
NC_000007.12:g.24723533G>A	NCBI36
NG_011593.1:g.45632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.577-15C>T	ENSP00000339587.3:n.577-15C>T
ENST00000409970.6:c.85-15C>T	ENSP00000387119.1:n.85-15C>T
ENST00000411476.3:n.346-15C>T
ENST00000414428.2:c.577-15C>T	ENSP00000413963.2:n.577-15C>T
ENST00000419307.6:c.85-15C>T	ENSP00000401332.1:n.85-15C>T
ENST00000446822.6:c.51-15C>T
ENST00000559637.6:n.272-15C>T
ENST00000645220.1:c.577-15C>T MANE Select	ENSP00000494186.1:n.577-15C>T
ENST00000342947.7:c.577-15C>T	ENSP00000339587.3:n.577-15C>T
ENST00000409775.7:c.577-15C>T	ENSP00000386670.3:n.577-15C>T
ENST00000409970.5:c.85-15C>T	ENSP00000387119.1:n.85-15C>T
ENST00000411476.2:c.346-15C>T	ENSP00000414090.2:n.346-15C>T
ENST00000419307.5:c.85-15C>T	ENSP00000401332.1:n.85-15C>T
ENST00000446822.5:c.51-15C>T
ENST00000493723.5:n.596-15C>T
ENST00000559637.5:n.272-15C>T
NM_001127453.1:c.577-15C>T	NP_001120925.1:n.577-15C>T
NM_001127454.1:c.85-15C>T	NP_001120926.1:n.85-15C>T
NM_004403.2:c.577-15C>T	NP_004394.1:n.577-15C>T
XM_017011802.1:c.85-15C>T	XP_016867291.1:n.85-15C>T
XM_024446670.1:c.577-15C>T	XP_024302438.1:n.577-15C>T
NM_004403.3:c.577-15C>T	NP_004394.1:n.577-15C>T
NM_001127453.2:c.577-15C>T MANE Select	NP_001120925.1:n.577-15C>T
NM_001127454.2:c.85-15C>T	NP_001120926.1:n.85-15C>T