Canonical Allele Identifier: CA388151373

Gene: SUCLA2

Linked Data

• MyVariant Identifiers: chr13:g.48563045G>A (hg19) ; chr13:g.47988910G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000642944.1:c.169C>T	ENSP00000495674.1:p.Leu57Phe
ENST00000643023.1:c.343C>T	ENSP00000495664.1:p.Leu115Phe
ENST00000643584.1:c.343C>T	ENSP00000494987.1:p.Leu115Phe
ENST00000644338.1:c.343C>T	ENSP00000494723.1:p.Leu115Phe
ENST00000646602.1:c.343C>T	ENSP00000495250.1:p.Leu115Phe
ENST00000646804.1:c.169C>T	ENSP00000493977.1:p.Leu57Phe
ENST00000646932.1:c.343C>T MANE Select	ENSP00000494360.1:p.Leu115Phe
ENST00000647361.1:c.*136C>T	ENSP00000494607.1:n.*136C>T
ENST00000378654.8:c.343C>T	ENSP00000367923.3:p.Leu115Phe
ENST00000433022.1:c.90+12270C>T	ENSP00000415091.1:n.90+12270C>T
ENST00000434484.5:c.133C>T	ENSP00000392771.1:p.Leu45Phe
ENST00000470760.2:c.343C>T	ENSP00000488974.1:p.Leu115Phe
ENST00000497202.6:c.437C>T	ENSP00000489175.1:n.437C>T
NM_003850.2:c.343C>T	NP_003841.1:p.Leu115Phe
XM_011535292.1:c.106C>T	XP_011533594.1:p.Leu36Phe
XM_011535293.1:c.-60C>T	XP_011533595.1:n.-60C>T
XR_941688.1:n.387C>T
NM_003850.3:c.343C>T MANE Select	NP_003841.1:p.Leu115Phe