Canonical Allele Identifier: CA249817868

Gene: SUCLA2

Linked Data

• dbSNP Id: rs180722778
• gnomAD v3: 13-47949425-A-C
• gnomAD v4: 13-47949425-A-C
• MyVariant Identifiers: chr13:g.48523560A>C (hg19) ; chr13:g.47949425A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47949425A>C , CM000675.2:g.47949425A>C	GRCh38
NC_000013.10:g.48523560A>C , CM000675.1:g.48523560A>C	GRCh37
NC_000013.9:g.47421561A>C	NCBI36
NG_008241.1:g.56903T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634878.2:c.741+58T>G
ENST00000642944.1:c.1054+58T>G	ENSP00000495674.1:n.1054+58T>G
ENST00000643023.1:c.1291+58T>G	ENSP00000495664.1:n.1291+58T>G
ENST00000643584.1:c.1228+58T>G	ENSP00000494987.1:n.1228+58T>G
ENST00000646804.1:c.1054+58T>G	ENSP00000493977.1:n.1054+58T>G
ENST00000646932.1:c.1228+58T>G MANE Select	ENSP00000494360.1:n.1228+58T>G
ENST00000647361.1:c.*1021+58T>G	ENSP00000494607.1:n.*1021+58T>G
ENST00000378654.8:c.1228+58T>G	ENSP00000367923.3:n.1228+58T>G
ENST00000467222.1:n.536+58T>G
ENST00000493152.6:c.79+58T>G	ENSP00000489055.1:n.79+58T>G
ENST00000634878.1:c.741+58T>G
NM_003850.2:c.1228+58T>G	NP_003841.1:n.1228+58T>G
XM_011535292.1:c.991+58T>G	XP_011533594.1:n.991+58T>G
XM_011535293.1:c.826+58T>G	XP_011533595.1:n.826+58T>G
NM_003850.3:c.1228+58T>G MANE Select	NP_003841.1:n.1228+58T>G