Canonical Allele Identifier: CA483708526
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48523628T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47949493T>G , CM000675.2:g.47949493T>G GRCh38
NC_000013.10:g.48523628T>G , CM000675.1:g.48523628T>G GRCh37
NC_000013.9:g.47421629T>G NCBI36
NG_008241.1:g.56835A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000634878.2:c.731A>C
ENST00000642944.1:c.1044A>C ENSP00000495674.1:p.Val348=
ENST00000643023.1:c.1281A>C ENSP00000495664.1:p.Val427=
ENST00000643584.1:c.1218A>C ENSP00000494987.1:p.Val406=
ENST00000646804.1:c.1044A>C ENSP00000493977.1:p.Val348=
ENST00000646932.1:c.1218A>C MANE Select ENSP00000494360.1:p.Val406=
ENST00000647361.1:c.*1011A>C ENSP00000494607.1:n.*1011A>C
ENST00000378654.8:c.1218A>C ENSP00000367923.3:p.Val406=
ENST00000467222.1:n.526A>C
ENST00000493152.6:c.69A>C ENSP00000489055.1:p.Val23=
ENST00000634878.1:c.731A>C
NM_003850.2:c.1218A>C NP_003841.1:p.Val406=
XM_011535292.1:c.981A>C XP_011533594.1:p.Val327=
XM_011535293.1:c.816A>C XP_011533595.1:p.Val272=
NM_003850.3:c.1218A>C MANE Select NP_003841.1:p.Val406=