Canonical Allele Identifier: CA52252275
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs371622046
gnomAD v4: 2-84425370-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425370G>C , CM000664.2:g.84425370G>C GRCh38
NC_000002.11:g.84652494G>C , CM000664.1:g.84652494G>C GRCh37
NC_000002.10:g.84506005G>C NCBI36
NG_016755.1:g.39093C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.1014+45C>G MANE Select ENSP00000377446.2:n.1014+45C>G
ENST00000651342.1:c.*454+45C>G ENSP00000498471.1:n.*454+45C>G
ENST00000393868.6:c.1014+45C>G ENSP00000377446.2:n.1014+45C>G
ENST00000484365.1:n.1522+45C>G
ENST00000491123.5:n.860+45C>G
NM_003849.3:c.1014+45C>G NP_003840.2:n.1014+45C>G
NM_003849.4:c.1014+45C>G MANE Select NP_003840.2:n.1014+45C>G