Canonical Allele Identifier: CA1032992385
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs1672514804
gnomAD v3: 2-84425275-G-A
gnomAD v4: 2-84425275-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425275G>A , CM000664.2:g.84425275G>A GRCh38
NC_000002.11:g.84652399G>A , CM000664.1:g.84652399G>A GRCh37
NC_000002.10:g.84505910G>A NCBI36
NG_016755.1:g.39188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.1014+140C>T MANE Select ENSP00000377446.2:n.1014+140C>T
ENST00000651342.1:c.*454+140C>T ENSP00000498471.1:n.*454+140C>T
ENST00000393868.6:c.1014+140C>T ENSP00000377446.2:n.1014+140C>T
ENST00000484365.1:n.1522+140C>T
ENST00000491123.5:n.860+140C>T
NM_003849.3:c.1014+140C>T NP_003840.2:n.1014+140C>T
NM_003849.4:c.1014+140C>T MANE Select NP_003840.2:n.1014+140C>T