Canonical Allele Identifier: CA52252305
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs369848050
gnomAD v4: 2-84425603-C-A
MyVariant Identifiers: chr2:g.84652727C>A (hg19) chr2:g.84425603C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425603C>A , CM000664.2:g.84425603C>A GRCh38
NC_000002.11:g.84652727C>A , CM000664.1:g.84652727C>A GRCh37
NC_000002.10:g.84506238C>A NCBI36
NG_016755.1:g.38860G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.826G>T MANE Select ENSP00000377446.2:p.Gly276Cys
ENST00000651342.1:c.*266G>T ENSP00000498471.1:n.*266G>T
ENST00000393868.6:c.826G>T ENSP00000377446.2:p.Gly276Cys
ENST00000484365.1:n.1334G>T
ENST00000487809.1:n.573G>T
ENST00000491123.5:n.672G>T
NM_003849.3:c.826G>T NP_003840.2:p.Gly276Cys
NM_003849.4:c.826G>T MANE Select NP_003840.2:p.Gly276Cys
Search 100 bp 5'
Search 100 bp 3'