Canonical Allele Identifier: CA483555589
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48563019G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47988884G>A , CM000675.2:g.47988884G>A GRCh38
NC_000013.10:g.48563019G>A , CM000675.1:g.48563019G>A GRCh37
NC_000013.9:g.47461020G>A NCBI36
NG_008241.1:g.17444C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642944.1:c.195C>T ENSP00000495674.1:p.Phe65=
ENST00000643023.1:c.369C>T ENSP00000495664.1:p.Phe123=
ENST00000643584.1:c.369C>T ENSP00000494987.1:p.Phe123=
ENST00000644338.1:c.369C>T ENSP00000494723.1:p.Phe123=
ENST00000646602.1:c.369C>T ENSP00000495250.1:p.Phe123=
ENST00000646804.1:c.195C>T ENSP00000493977.1:p.Phe65=
ENST00000646932.1:c.369C>T MANE Select ENSP00000494360.1:p.Phe123=
ENST00000647361.1:c.*162C>T ENSP00000494607.1:n.*162C>T
ENST00000378654.8:c.369C>T ENSP00000367923.3:p.Phe123=
ENST00000433022.1:c.90+12296C>T ENSP00000415091.1:n.90+12296C>T
ENST00000434484.5:c.159C>T ENSP00000392771.1:p.Phe53=
ENST00000470760.2:c.369C>T ENSP00000488974.1:p.Phe123=
ENST00000497202.6:c.463C>T ENSP00000489175.1:n.463C>T
NM_003850.2:c.369C>T NP_003841.1:p.Phe123=
XM_011535292.1:c.132C>T XP_011533594.1:p.Phe44=
XM_011535293.1:c.-34C>T XP_011533595.1:n.-34C>T
XR_941688.1:n.413C>T
NM_003850.3:c.369C>T MANE Select NP_003841.1:p.Phe123=