Canonical Allele Identifier: CA483555653
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48563112T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47988977T>G , CM000675.2:g.47988977T>G GRCh38
NC_000013.10:g.48563112T>G , CM000675.1:g.48563112T>G GRCh37
NC_000013.9:g.47461113T>G NCBI36
NG_008241.1:g.17351A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642944.1:c.102A>C ENSP00000495674.1:p.Ser34=
ENST00000643023.1:c.276A>C ENSP00000495664.1:p.Ser92=
ENST00000643584.1:c.276A>C ENSP00000494987.1:p.Ser92=
ENST00000644338.1:c.276A>C ENSP00000494723.1:p.Ser92=
ENST00000646602.1:c.276A>C ENSP00000495250.1:p.Ser92=
ENST00000646804.1:c.102A>C ENSP00000493977.1:p.Ser34=
ENST00000646932.1:c.276A>C MANE Select ENSP00000494360.1:p.Ser92=
ENST00000647361.1:c.*69A>C ENSP00000494607.1:n.*69A>C
ENST00000378654.8:c.276A>C ENSP00000367923.3:p.Ser92=
ENST00000433022.1:c.90+12203A>C ENSP00000415091.1:n.90+12203A>C
ENST00000434484.5:c.66A>C ENSP00000392771.1:p.Ser22=
ENST00000470760.2:c.276A>C ENSP00000488974.1:p.Ser92=
ENST00000497202.6:c.370A>C ENSP00000489175.1:p.Lys124Gln
NM_003850.2:c.276A>C NP_003841.1:p.Ser92=
XM_011535292.1:c.39A>C XP_011533594.1:p.Ser13=
XM_011535293.1:c.-127A>C XP_011533595.1:n.-127A>C
XR_941688.1:n.320A>C
NM_003850.3:c.276A>C MANE Select NP_003841.1:p.Ser92=