Canonical Allele Identifier: CA388151380

Gene: SUCLA2

Linked Data

• gnomAD v4: 13-47988910-G-T
• MyVariant Identifiers: chr13:g.48563045G>T (hg19) ; chr13:g.47988910G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988910G>T , CM000675.2:g.47988910G>T	GRCh38
NC_000013.10:g.48563045G>T , CM000675.1:g.48563045G>T	GRCh37
NC_000013.9:g.47461046G>T	NCBI36
NG_008241.1:g.17418C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642944.1:c.169C>A	ENSP00000495674.1:p.Leu57Ile
ENST00000643023.1:c.343C>A	ENSP00000495664.1:p.Leu115Ile
ENST00000643584.1:c.343C>A	ENSP00000494987.1:p.Leu115Ile
ENST00000644338.1:c.343C>A	ENSP00000494723.1:p.Leu115Ile
ENST00000646602.1:c.343C>A	ENSP00000495250.1:p.Leu115Ile
ENST00000646804.1:c.169C>A	ENSP00000493977.1:p.Leu57Ile
ENST00000646932.1:c.343C>A MANE Select	ENSP00000494360.1:p.Leu115Ile
ENST00000647361.1:c.*136C>A	ENSP00000494607.1:n.*136C>A
ENST00000378654.8:c.343C>A	ENSP00000367923.3:p.Leu115Ile
ENST00000433022.1:c.90+12270C>A	ENSP00000415091.1:n.90+12270C>A
ENST00000434484.5:c.133C>A	ENSP00000392771.1:p.Leu45Ile
ENST00000470760.2:c.343C>A	ENSP00000488974.1:p.Leu115Ile
ENST00000497202.6:c.437C>A	ENSP00000489175.1:n.437C>A
NM_003850.2:c.343C>A	NP_003841.1:p.Leu115Ile
XM_011535292.1:c.106C>A	XP_011533594.1:p.Leu36Ile
XM_011535293.1:c.-60C>A	XP_011533595.1:n.-60C>A
XR_941688.1:n.387C>A
NM_003850.3:c.343C>A MANE Select	NP_003841.1:p.Leu115Ile