Canonical Allele Identifier: CA483555603
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48563037T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47988902T>A , CM000675.2:g.47988902T>A GRCh38
NC_000013.10:g.48563037T>A , CM000675.1:g.48563037T>A GRCh37
NC_000013.9:g.47461038T>A NCBI36
NG_008241.1:g.17426A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642944.1:c.177A>T ENSP00000495674.1:p.Gly59=
ENST00000643023.1:c.351A>T ENSP00000495664.1:p.Gly117=
ENST00000643584.1:c.351A>T ENSP00000494987.1:p.Gly117=
ENST00000644338.1:c.351A>T ENSP00000494723.1:p.Gly117=
ENST00000646602.1:c.351A>T ENSP00000495250.1:p.Gly117=
ENST00000646804.1:c.177A>T ENSP00000493977.1:p.Gly59=
ENST00000646932.1:c.351A>T MANE Select ENSP00000494360.1:p.Gly117=
ENST00000647361.1:c.*144A>T ENSP00000494607.1:n.*144A>T
ENST00000378654.8:c.351A>T ENSP00000367923.3:p.Gly117=
ENST00000433022.1:c.90+12278A>T ENSP00000415091.1:n.90+12278A>T
ENST00000434484.5:c.141A>T ENSP00000392771.1:p.Gly47=
ENST00000470760.2:c.351A>T ENSP00000488974.1:p.Gly117=
ENST00000497202.6:c.445A>T ENSP00000489175.1:n.445A>T
NM_003850.2:c.351A>T NP_003841.1:p.Gly117=
XM_011535292.1:c.114A>T XP_011533594.1:p.Gly38=
XM_011535293.1:c.-52A>T XP_011533595.1:n.-52A>T
XR_941688.1:n.395A>T
NM_003850.3:c.351A>T MANE Select NP_003841.1:p.Gly117=