Canonical Allele Identifier: CA388151046

Gene: SUCLA2

Linked Data

• MyVariant Identifiers: chr13:g.48562827G>T (hg19) ; chr13:g.47988692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988692G>T , CM000675.2:g.47988692G>T	GRCh38
NC_000013.10:g.48562827G>T , CM000675.1:g.48562827G>T	GRCh37
NC_000013.9:g.47460828G>T	NCBI36
NG_008241.1:g.17636C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.209C>A	ENSP00000495674.1:p.Ala70Glu
ENST00000643023.1:c.383C>A	ENSP00000495664.1:p.Ala128Glu
ENST00000643584.1:c.383C>A	ENSP00000494987.1:p.Ala128Glu
ENST00000644338.1:c.383C>A	ENSP00000494723.1:p.Ala128Glu
ENST00000646602.1:c.383C>A	ENSP00000495250.1:p.Ala128Glu
ENST00000646804.1:c.209C>A	ENSP00000493977.1:p.Ala70Glu
ENST00000646932.1:c.383C>A MANE Select	ENSP00000494360.1:p.Ala128Glu
ENST00000647361.1:c.*176C>A	ENSP00000494607.1:n.*176C>A
ENST00000378654.8:c.383C>A	ENSP00000367923.3:p.Ala128Glu
ENST00000433022.1:c.90+12488C>A	ENSP00000415091.1:n.90+12488C>A
ENST00000434484.5:c.173C>A	ENSP00000392771.1:p.Ala58Glu
ENST00000470760.2:c.383C>A	ENSP00000488974.1:p.Ala128Glu
ENST00000497202.6:c.477C>A	ENSP00000489175.1:n.477C>A
NM_003850.2:c.383C>A	NP_003841.1:p.Ala128Glu
XM_011535292.1:c.146C>A	XP_011533594.1:p.Ala49Glu
XM_011535293.1:c.-20C>A	XP_011533595.1:n.-20C>A
XR_941688.1:n.427C>A
NM_003850.3:c.383C>A MANE Select	NP_003841.1:p.Ala128Glu