Canonical Allele Identifier: CA347514822
Gene: SUCLG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425582C>T , CM000664.2:g.84425582C>T GRCh38
NC_000002.11:g.84652706C>T , CM000664.1:g.84652706C>T GRCh37
NC_000002.10:g.84506217C>T NCBI36
NG_016755.1:g.38881G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.847G>A MANE Select ENSP00000377446.2:p.Val283Met
ENST00000651342.1:c.*287G>A ENSP00000498471.1:n.*287G>A
ENST00000393868.6:c.847G>A ENSP00000377446.2:p.Val283Met
ENST00000484365.1:n.1355G>A
ENST00000487809.1:n.594G>A
ENST00000491123.5:n.693G>A
NM_003849.3:c.847G>A NP_003840.2:p.Val283Met
NM_003849.4:c.847G>A MANE Select NP_003840.2:p.Val283Met