Canonical Allele Identifier: CA388151625

Gene: SUCLA2

Linked Data

• MyVariant Identifiers: chr13:g.48563084A>C (hg19) ; chr13:g.47988949A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988949A>C , CM000675.2:g.47988949A>C	GRCh38
NC_000013.10:g.48563084A>C , CM000675.1:g.48563084A>C	GRCh37
NC_000013.9:g.47461085A>C	NCBI36
NG_008241.1:g.17379T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.130T>G	ENSP00000495674.1:p.Leu44Val
ENST00000643023.1:c.304T>G	ENSP00000495664.1:p.Leu102Val
ENST00000643584.1:c.304T>G	ENSP00000494987.1:p.Leu102Val
ENST00000644338.1:c.304T>G	ENSP00000494723.1:p.Leu102Val
ENST00000646602.1:c.304T>G	ENSP00000495250.1:p.Leu102Val
ENST00000646804.1:c.130T>G	ENSP00000493977.1:p.Leu44Val
ENST00000646932.1:c.304T>G MANE Select	ENSP00000494360.1:p.Leu102Val
ENST00000647361.1:c.*97T>G	ENSP00000494607.1:n.*97T>G
ENST00000378654.8:c.304T>G	ENSP00000367923.3:p.Leu102Val
ENST00000433022.1:c.90+12231T>G	ENSP00000415091.1:n.90+12231T>G
ENST00000434484.5:c.94T>G	ENSP00000392771.1:p.Leu32Val
ENST00000470760.2:c.304T>G	ENSP00000488974.1:p.Leu102Val
ENST00000497202.6:c.398T>G	ENSP00000489175.1:p.Phe133Cys
NM_003850.2:c.304T>G	NP_003841.1:p.Leu102Val
XM_011535292.1:c.67T>G	XP_011533594.1:p.Leu23Val
XM_011535293.1:c.-99T>G	XP_011533595.1:n.-99T>G
XR_941688.1:n.348T>G
NM_003850.3:c.304T>G MANE Select	NP_003841.1:p.Leu102Val