Canonical Allele Identifier: CA427119060
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs1239390945
gnomAD v2: 2-84658689-A-G
gnomAD v4: 2-84431565-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84431565A>G , CM000664.2:g.84431565A>G GRCh38
NC_000002.11:g.84658689A>G , CM000664.1:g.84658689A>G GRCh37
NC_000002.10:g.84512200A>G NCBI36
NG_016755.1:g.32898T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.768T>C MANE Select ENSP00000377446.2:p.Gly256=
ENST00000651342.1:c.*208T>C ENSP00000498471.1:n.*208T>C
ENST00000393868.6:c.768T>C ENSP00000377446.2:p.Gly256=
ENST00000487809.1:n.515T>C
ENST00000491123.5:n.614T>C
NM_003849.3:c.768T>C NP_003840.2:p.Gly256=
NM_003849.4:c.768T>C MANE Select NP_003840.2:p.Gly256=