Canonical Allele Identifier: CA2622964858

Gene: SUCLA2

Linked Data

• gnomAD v4: 13-47949412-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47949412C>A , CM000675.2:g.47949412C>A	GRCh38
NC_000013.10:g.48523547C>A , CM000675.1:g.48523547C>A	GRCh37
NC_000013.9:g.47421548C>A	NCBI36
NG_008241.1:g.56916G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634878.2:c.741+71G>T
ENST00000642944.1:c.1054+71G>T	ENSP00000495674.1:n.1054+71G>T
ENST00000643023.1:c.1291+71G>T	ENSP00000495664.1:n.1291+71G>T
ENST00000643584.1:c.1228+71G>T	ENSP00000494987.1:n.1228+71G>T
ENST00000646804.1:c.1054+71G>T	ENSP00000493977.1:n.1054+71G>T
ENST00000646932.1:c.1228+71G>T MANE Select	ENSP00000494360.1:n.1228+71G>T
ENST00000647361.1:c.*1021+71G>T	ENSP00000494607.1:n.*1021+71G>T
ENST00000378654.8:c.1228+71G>T	ENSP00000367923.3:n.1228+71G>T
ENST00000467222.1:n.536+71G>T
ENST00000493152.6:c.79+71G>T	ENSP00000489055.1:n.79+71G>T
ENST00000634878.1:c.741+71G>T
NM_003850.2:c.1228+71G>T	NP_003841.1:n.1228+71G>T
XM_011535292.1:c.991+71G>T	XP_011533594.1:n.991+71G>T
XM_011535293.1:c.826+71G>T	XP_011533595.1:n.826+71G>T
NM_003850.3:c.1228+71G>T MANE Select	NP_003841.1:n.1228+71G>T