Canonical Allele Identifier: CA347515076

Gene: SUCLG1

Linked Data

• dbSNP Id: rs1672615435
• MyVariant Identifiers: chr2:g.84658725C>A (hg19) ; chr2:g.84431601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84431601C>A , CM000664.2:g.84431601C>A	GRCh38
NC_000002.11:g.84658725C>A , CM000664.1:g.84658725C>A	GRCh37
NC_000002.10:g.84512236C>A	NCBI36
NG_016755.1:g.32862G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.732G>T MANE Select	ENSP00000377446.2:p.Leu244Phe
ENST00000651342.1:c.*172G>T	ENSP00000498471.1:n.*172G>T
ENST00000393868.6:c.732G>T	ENSP00000377446.2:p.Leu244Phe
ENST00000487809.1:n.479G>T
ENST00000491123.5:n.578G>T
NM_003849.3:c.732G>T	NP_003840.2:p.Leu244Phe
NM_003849.4:c.732G>T MANE Select	NP_003840.2:p.Leu244Phe