Canonical Allele Identifier: CA388151419

Gene: SUCLA2

Linked Data

• ClinVar Variation Id: 2313736
• ClinVar RCV Id: RCV002897001
• MyVariant Identifiers: chr13:g.48563051T>G (hg19) ; chr13:g.47988916T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988916T>G , CM000675.2:g.47988916T>G	GRCh38
NC_000013.10:g.48563051T>G , CM000675.1:g.48563051T>G	GRCh37
NC_000013.9:g.47461052T>G	NCBI36
NG_008241.1:g.17412A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.163A>C	ENSP00000495674.1:p.Ser55Arg
ENST00000643023.1:c.337A>C	ENSP00000495664.1:p.Ser113Arg
ENST00000643584.1:c.337A>C	ENSP00000494987.1:p.Ser113Arg
ENST00000644338.1:c.337A>C	ENSP00000494723.1:p.Ser113Arg
ENST00000646602.1:c.337A>C	ENSP00000495250.1:p.Ser113Arg
ENST00000646804.1:c.163A>C	ENSP00000493977.1:p.Ser55Arg
ENST00000646932.1:c.337A>C MANE Select	ENSP00000494360.1:p.Ser113Arg
ENST00000647361.1:c.*130A>C	ENSP00000494607.1:n.*130A>C
ENST00000378654.8:c.337A>C	ENSP00000367923.3:p.Ser113Arg
ENST00000433022.1:c.90+12264A>C	ENSP00000415091.1:n.90+12264A>C
ENST00000434484.5:c.127A>C	ENSP00000392771.1:p.Ser43Arg
ENST00000470760.2:c.337A>C	ENSP00000488974.1:p.Ser113Arg
ENST00000497202.6:c.431A>C	ENSP00000489175.1:n.431A>C
NM_003850.2:c.337A>C	NP_003841.1:p.Ser113Arg
XM_011535292.1:c.100A>C	XP_011533594.1:p.Ser34Arg
XM_011535293.1:c.-66A>C	XP_011533595.1:n.-66A>C
XR_941688.1:n.381A>C
NM_003850.3:c.337A>C MANE Select	NP_003841.1:p.Ser113Arg