Canonical Allele Identifier: CA114698
Gene: SUCLG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18410
ClinVar RCV Id: RCV000001041
dbSNP Id: rs267607099

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84441269G>C , CM000664.2:g.84441269G>C GRCh38
NC_000002.11:g.84668393G>C , CM000664.1:g.84668393G>C GRCh37
NC_000002.10:g.84521904G>C NCBI36
NG_016755.1:g.23194C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000393868.7:c.509C>G MANE Select ENSP00000377446.2:p.Pro170Arg
ENST00000651342.1:c.509C>G ENSP00000498471.1:p.Pro170Arg
ENST00000393868.6:c.509C>G ENSP00000377446.2:p.Pro170Arg
ENST00000430989.1:n.549C>G
ENST00000442240.5:c.520C>G
ENST00000483605.5:n.588C>G
ENST00000491642.5:n.681C>G
NM_003849.3:c.509C>G NP_003840.2:p.Pro170Arg
NM_003849.4:c.509C>G MANE Select NP_003840.2:p.Pro170Arg