Canonical Allele Identifier: CA483708575
Gene: SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48523637A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47949502A>G , CM000675.2:g.47949502A>G GRCh38
NC_000013.10:g.48523637A>G , CM000675.1:g.48523637A>G GRCh37
NC_000013.9:g.47421638A>G NCBI36
NG_008241.1:g.56826T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000634878.2:c.722T>C
ENST00000642944.1:c.1035T>C ENSP00000495674.1:p.Pro345=
ENST00000643023.1:c.1272T>C ENSP00000495664.1:p.Pro424=
ENST00000643584.1:c.1209T>C ENSP00000494987.1:p.Pro403=
ENST00000646804.1:c.1035T>C ENSP00000493977.1:p.Pro345=
ENST00000646932.1:c.1209T>C MANE Select ENSP00000494360.1:p.Pro403=
ENST00000647361.1:c.*1002T>C ENSP00000494607.1:n.*1002T>C
ENST00000378654.8:c.1209T>C ENSP00000367923.3:p.Pro403=
ENST00000467222.1:n.517T>C
ENST00000493152.6:c.60T>C ENSP00000489055.1:p.Pro20=
ENST00000634878.1:c.722T>C
NM_003850.2:c.1209T>C NP_003841.1:p.Pro403=
XM_011535292.1:c.972T>C XP_011533594.1:p.Pro324=
XM_011535293.1:c.807T>C XP_011533595.1:p.Pro269=
NM_003850.3:c.1209T>C MANE Select NP_003841.1:p.Pro403=