Canonical Allele Identifier: CA483555644
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48563100C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47988965C>A , CM000675.2:g.47988965C>A GRCh38
NC_000013.10:g.48563100C>A , CM000675.1:g.48563100C>A GRCh37
NC_000013.9:g.47461101C>A NCBI36
NG_008241.1:g.17363G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642944.1:c.114G>T ENSP00000495674.1:p.Val38=
ENST00000643023.1:c.288G>T ENSP00000495664.1:p.Val96=
ENST00000643584.1:c.288G>T ENSP00000494987.1:p.Val96=
ENST00000644338.1:c.288G>T ENSP00000494723.1:p.Val96=
ENST00000646602.1:c.288G>T ENSP00000495250.1:p.Val96=
ENST00000646804.1:c.114G>T ENSP00000493977.1:p.Val38=
ENST00000646932.1:c.288G>T MANE Select ENSP00000494360.1:p.Val96=
ENST00000647361.1:c.*81G>T ENSP00000494607.1:n.*81G>T
ENST00000378654.8:c.288G>T ENSP00000367923.3:p.Val96=
ENST00000433022.1:c.90+12215G>T ENSP00000415091.1:n.90+12215G>T
ENST00000434484.5:c.78G>T ENSP00000392771.1:p.Val26=
ENST00000470760.2:c.288G>T ENSP00000488974.1:p.Val96=
ENST00000497202.6:c.382G>T ENSP00000489175.1:p.Asp128Tyr
NM_003850.2:c.288G>T NP_003841.1:p.Val96=
XM_011535292.1:c.51G>T XP_011533594.1:p.Val17=
XM_011535293.1:c.-115G>T XP_011533595.1:n.-115G>T
XR_941688.1:n.332G>T
NM_003850.3:c.288G>T MANE Select NP_003841.1:p.Val96=