Canonical Allele Identifier: CA483555607
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48563046G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47988911G>A , CM000675.2:g.47988911G>A GRCh38
NC_000013.10:g.48563046G>A , CM000675.1:g.48563046G>A GRCh37
NC_000013.9:g.47461047G>A NCBI36
NG_008241.1:g.17417C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642944.1:c.168C>T ENSP00000495674.1:p.Gly56=
ENST00000643023.1:c.342C>T ENSP00000495664.1:p.Gly114=
ENST00000643584.1:c.342C>T ENSP00000494987.1:p.Gly114=
ENST00000644338.1:c.342C>T ENSP00000494723.1:p.Gly114=
ENST00000646602.1:c.342C>T ENSP00000495250.1:p.Gly114=
ENST00000646804.1:c.168C>T ENSP00000493977.1:p.Gly56=
ENST00000646932.1:c.342C>T MANE Select ENSP00000494360.1:p.Gly114=
ENST00000647361.1:c.*135C>T ENSP00000494607.1:n.*135C>T
ENST00000378654.8:c.342C>T ENSP00000367923.3:p.Gly114=
ENST00000433022.1:c.90+12269C>T ENSP00000415091.1:n.90+12269C>T
ENST00000434484.5:c.132C>T ENSP00000392771.1:p.Gly44=
ENST00000470760.2:c.342C>T ENSP00000488974.1:p.Gly114=
ENST00000497202.6:c.436C>T ENSP00000489175.1:n.436C>T
NM_003850.2:c.342C>T NP_003841.1:p.Gly114=
XM_011535292.1:c.105C>T XP_011533594.1:p.Gly35=
XM_011535293.1:c.-61C>T XP_011533595.1:n.-61C>T
XR_941688.1:n.386C>T
NM_003850.3:c.342C>T MANE Select NP_003841.1:p.Gly114=