Canonical Allele Identifier: CA483555605
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48563043G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47988908G>T , CM000675.2:g.47988908G>T GRCh38
NC_000013.10:g.48563043G>T , CM000675.1:g.48563043G>T GRCh37
NC_000013.9:g.47461044G>T NCBI36
NG_008241.1:g.17420C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642944.1:c.171C>A ENSP00000495674.1:p.Leu57=
ENST00000643023.1:c.345C>A ENSP00000495664.1:p.Leu115=
ENST00000643584.1:c.345C>A ENSP00000494987.1:p.Leu115=
ENST00000644338.1:c.345C>A ENSP00000494723.1:p.Leu115=
ENST00000646602.1:c.345C>A ENSP00000495250.1:p.Leu115=
ENST00000646804.1:c.171C>A ENSP00000493977.1:p.Leu57=
ENST00000646932.1:c.345C>A MANE Select ENSP00000494360.1:p.Leu115=
ENST00000647361.1:c.*138C>A ENSP00000494607.1:n.*138C>A
ENST00000378654.8:c.345C>A ENSP00000367923.3:p.Leu115=
ENST00000433022.1:c.90+12272C>A ENSP00000415091.1:n.90+12272C>A
ENST00000434484.5:c.135C>A ENSP00000392771.1:p.Leu45=
ENST00000470760.2:c.345C>A ENSP00000488974.1:p.Leu115=
ENST00000497202.6:c.439C>A ENSP00000489175.1:n.439C>A
NM_003850.2:c.345C>A NP_003841.1:p.Leu115=
XM_011535292.1:c.108C>A XP_011533594.1:p.Leu36=
XM_011535293.1:c.-58C>A XP_011533595.1:n.-58C>A
XR_941688.1:n.389C>A
NM_003850.3:c.345C>A MANE Select NP_003841.1:p.Leu115=