Canonical Allele Identifier: CA483555618

Gene: SUCLA2

Linked Data

• dbSNP Id: rs1385385571
• gnomAD v2: 13-48563064-T-C
• gnomAD v4: 13-47988929-T-C
• MyVariant Identifiers: chr13:g.48563064T>C (hg19) ; chr13:g.47988929T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988929T>C , CM000675.2:g.47988929T>C	GRCh38
NC_000013.10:g.48563064T>C , CM000675.1:g.48563064T>C	GRCh37
NC_000013.9:g.47461065T>C	NCBI36
NG_008241.1:g.17399A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.150A>G	ENSP00000495674.1:p.Lys50=
ENST00000643023.1:c.324A>G	ENSP00000495664.1:p.Lys108=
ENST00000643584.1:c.324A>G	ENSP00000494987.1:p.Lys108=
ENST00000644338.1:c.324A>G	ENSP00000494723.1:p.Lys108=
ENST00000646602.1:c.324A>G	ENSP00000495250.1:p.Lys108=
ENST00000646804.1:c.150A>G	ENSP00000493977.1:p.Lys50=
ENST00000646932.1:c.324A>G MANE Select	ENSP00000494360.1:p.Lys108=
ENST00000647361.1:c.*117A>G	ENSP00000494607.1:n.*117A>G
ENST00000378654.8:c.324A>G	ENSP00000367923.3:p.Lys108=
ENST00000433022.1:c.90+12251A>G	ENSP00000415091.1:n.90+12251A>G
ENST00000434484.5:c.114A>G	ENSP00000392771.1:p.Lys38=
ENST00000470760.2:c.324A>G	ENSP00000488974.1:p.Lys108=
ENST00000497202.6:c.418A>G	ENSP00000489175.1:n.418A>G
NM_003850.2:c.324A>G	NP_003841.1:p.Lys108=
XM_011535292.1:c.87A>G	XP_011533594.1:p.Lys29=
XM_011535293.1:c.-79A>G	XP_011533595.1:n.-79A>G
XR_941688.1:n.368A>G
NM_003850.3:c.324A>G MANE Select	NP_003841.1:p.Lys108=