Canonical Allele Identifier: CA483555503
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48562688T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47988553T>C , CM000675.2:g.47988553T>C GRCh38
NC_000013.10:g.48562688T>C , CM000675.1:g.48562688T>C GRCh37
NC_000013.9:g.47460689T>C NCBI36
NG_008241.1:g.17775A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000642944.1:c.348A>G ENSP00000495674.1:p.Glu116=
ENST00000643023.1:c.522A>G ENSP00000495664.1:p.Glu174=
ENST00000643584.1:c.522A>G ENSP00000494987.1:p.Glu174=
ENST00000644338.1:c.522A>G ENSP00000494723.1:p.Glu174=
ENST00000646602.1:c.522A>G ENSP00000495250.1:p.Glu174=
ENST00000646804.1:c.348A>G ENSP00000493977.1:p.Glu116=
ENST00000646932.1:c.522A>G MANE Select ENSP00000494360.1:p.Glu174=
ENST00000647361.1:c.*315A>G ENSP00000494607.1:n.*315A>G
ENST00000378654.8:c.522A>G ENSP00000367923.3:p.Glu174=
ENST00000433022.1:c.90+12627A>G ENSP00000415091.1:n.90+12627A>G
ENST00000434484.5:c.312A>G ENSP00000392771.1:p.Glu104=
ENST00000470760.2:c.522A>G ENSP00000488974.1:p.Glu174=
ENST00000497202.6:c.616A>G ENSP00000489175.1:n.616A>G
NM_003850.2:c.522A>G NP_003841.1:p.Glu174=
XM_011535292.1:c.285A>G XP_011533594.1:p.Glu95=
XM_011535293.1:c.120A>G XP_011533595.1:p.Glu40=
XR_941688.1:n.566A>G
NM_003850.3:c.522A>G MANE Select NP_003841.1:p.Glu174=