Canonical Allele Identifier: CA347515199
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs1424560152
gnomAD v2: 2-84658780-A-C
gnomAD v3: 2-84431656-A-C
gnomAD v4: 2-84431656-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84431656A>C , CM000664.2:g.84431656A>C GRCh38
NC_000002.11:g.84658780A>C , CM000664.1:g.84658780A>C GRCh37
NC_000002.10:g.84512291A>C NCBI36
NG_016755.1:g.32807T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.677T>G MANE Select ENSP00000377446.2:p.Ile226Ser
ENST00000651342.1:c.*117T>G ENSP00000498471.1:n.*117T>G
ENST00000393868.6:c.677T>G ENSP00000377446.2:p.Ile226Ser
ENST00000487809.1:n.424T>G
ENST00000491123.5:n.523T>G
NM_003849.3:c.677T>G NP_003840.2:p.Ile226Ser
NM_003849.4:c.677T>G MANE Select NP_003840.2:p.Ile226Ser