Canonical Allele Identifier: CA483708522
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48523627G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47949492G>T , CM000675.2:g.47949492G>T GRCh38
NC_000013.10:g.48523627G>T , CM000675.1:g.48523627G>T GRCh37
NC_000013.9:g.47421628G>T NCBI36
NG_008241.1:g.56836C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000634878.2:c.732C>A
ENST00000642944.1:c.1045C>A ENSP00000495674.1:p.Arg349=
ENST00000643023.1:c.1282C>A ENSP00000495664.1:p.Arg428=
ENST00000643584.1:c.1219C>A ENSP00000494987.1:p.Arg407=
ENST00000646804.1:c.1045C>A ENSP00000493977.1:p.Arg349=
ENST00000646932.1:c.1219C>A MANE Select ENSP00000494360.1:p.Arg407=
ENST00000647361.1:c.*1012C>A ENSP00000494607.1:n.*1012C>A
ENST00000378654.8:c.1219C>A ENSP00000367923.3:p.Arg407=
ENST00000467222.1:n.527C>A
ENST00000493152.6:c.70C>A ENSP00000489055.1:p.Arg24=
ENST00000634878.1:c.732C>A
NM_003850.2:c.1219C>A NP_003841.1:p.Arg407=
XM_011535292.1:c.982C>A XP_011533594.1:p.Arg328=
XM_011535293.1:c.817C>A XP_011533595.1:p.Arg273=
NM_003850.3:c.1219C>A MANE Select NP_003841.1:p.Arg407=