Canonical Allele Identifier: CA609854376

Gene: SUCLA2

Linked Data

• dbSNP Id: rs1212435650
• gnomAD v2: 13-48523536-C-T
• gnomAD v3: 13-47949401-C-T
• gnomAD v4: 13-47949401-C-T
• MyVariant Identifiers: chr13:g.48523536C>T (hg19) ; chr13:g.47949401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47949401C>T , CM000675.2:g.47949401C>T	GRCh38
NC_000013.10:g.48523536C>T , CM000675.1:g.48523536C>T	GRCh37
NC_000013.9:g.47421537C>T	NCBI36
NG_008241.1:g.56927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634878.2:c.741+82G>A
ENST00000642944.1:c.1054+82G>A	ENSP00000495674.1:n.1054+82G>A
ENST00000643023.1:c.1291+82G>A	ENSP00000495664.1:n.1291+82G>A
ENST00000643584.1:c.1228+82G>A	ENSP00000494987.1:n.1228+82G>A
ENST00000646804.1:c.1054+82G>A	ENSP00000493977.1:n.1054+82G>A
ENST00000646932.1:c.1228+82G>A MANE Select	ENSP00000494360.1:n.1228+82G>A
ENST00000647361.1:c.*1021+82G>A	ENSP00000494607.1:n.*1021+82G>A
ENST00000378654.8:c.1228+82G>A	ENSP00000367923.3:n.1228+82G>A
ENST00000467222.1:n.536+82G>A
ENST00000493152.6:c.79+82G>A	ENSP00000489055.1:n.79+82G>A
ENST00000634878.1:c.741+82G>A
NM_003850.2:c.1228+82G>A	NP_003841.1:n.1228+82G>A
XM_011535292.1:c.991+82G>A	XP_011533594.1:n.991+82G>A
XM_011535293.1:c.826+82G>A	XP_011533595.1:n.826+82G>A
NM_003850.3:c.1228+82G>A MANE Select	NP_003841.1:n.1228+82G>A