Canonical Allele Identifier: CA388249631

Gene: SUCLA2

Linked Data

• MyVariant Identifiers: chr13:g.48523638G>T (hg19) ; chr13:g.47949503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47949503G>T , CM000675.2:g.47949503G>T	GRCh38
NC_000013.10:g.48523638G>T , CM000675.1:g.48523638G>T	GRCh37
NC_000013.9:g.47421639G>T	NCBI36
NG_008241.1:g.56825C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634878.2:c.721C>A
ENST00000642944.1:c.1034C>A	ENSP00000495674.1:p.Pro345His
ENST00000643023.1:c.1271C>A	ENSP00000495664.1:p.Pro424His
ENST00000643584.1:c.1208C>A	ENSP00000494987.1:p.Pro403His
ENST00000646804.1:c.1034C>A	ENSP00000493977.1:p.Pro345His
ENST00000646932.1:c.1208C>A MANE Select	ENSP00000494360.1:p.Pro403His
ENST00000647361.1:c.*1001C>A	ENSP00000494607.1:n.*1001C>A
ENST00000378654.8:c.1208C>A	ENSP00000367923.3:p.Pro403His
ENST00000467222.1:n.516C>A
ENST00000493152.6:c.59C>A	ENSP00000489055.1:p.Pro20His
ENST00000634878.1:c.721C>A
NM_003850.2:c.1208C>A	NP_003841.1:p.Pro403His
XM_011535292.1:c.971C>A	XP_011533594.1:p.Pro324His
XM_011535293.1:c.806C>A	XP_011533595.1:p.Pro269His
NM_003850.3:c.1208C>A MANE Select	NP_003841.1:p.Pro403His