Canonical Allele Identifier: CA483555623
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48563072T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47988937T>G , CM000675.2:g.47988937T>G GRCh38
NC_000013.10:g.48563072T>G , CM000675.1:g.48563072T>G GRCh37
NC_000013.9:g.47461073T>G NCBI36
NG_008241.1:g.17391A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642944.1:c.142A>C ENSP00000495674.1:p.Arg48=
ENST00000643023.1:c.316A>C ENSP00000495664.1:p.Arg106=
ENST00000643584.1:c.316A>C ENSP00000494987.1:p.Arg106=
ENST00000644338.1:c.316A>C ENSP00000494723.1:p.Arg106=
ENST00000646602.1:c.316A>C ENSP00000495250.1:p.Arg106=
ENST00000646804.1:c.142A>C ENSP00000493977.1:p.Arg48=
ENST00000646932.1:c.316A>C MANE Select ENSP00000494360.1:p.Arg106=
ENST00000647361.1:c.*109A>C ENSP00000494607.1:n.*109A>C
ENST00000378654.8:c.316A>C ENSP00000367923.3:p.Arg106=
ENST00000433022.1:c.90+12243A>C ENSP00000415091.1:n.90+12243A>C
ENST00000434484.5:c.106A>C ENSP00000392771.1:p.Arg36=
ENST00000470760.2:c.316A>C ENSP00000488974.1:p.Arg106=
ENST00000497202.6:c.410A>C ENSP00000489175.1:p.Ter137Ser
NM_003850.2:c.316A>C NP_003841.1:p.Arg106=
XM_011535292.1:c.79A>C XP_011533594.1:p.Arg27=
XM_011535293.1:c.-87A>C XP_011533595.1:n.-87A>C
XR_941688.1:n.360A>C
NM_003850.3:c.316A>C MANE Select NP_003841.1:p.Arg106=