Canonical Allele Identifier: CA347514821
Gene: SUCLG1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000393868.7:c.847G>T MANE Select ENSP00000377446.2:p.Val283Leu
ENST00000651342.1:c.*287G>T ENSP00000498471.1:n.*287G>T
ENST00000393868.6:c.847G>T ENSP00000377446.2:p.Val283Leu
ENST00000484365.1:n.1355G>T
ENST00000487809.1:n.594G>T
ENST00000491123.5:n.693G>T
NM_003849.3:c.847G>T NP_003840.2:p.Val283Leu
NM_003849.4:c.847G>T MANE Select NP_003840.2:p.Val283Leu