Canonical Allele Identifier: CA52252328
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs545531519
gnomAD v3: 2-84425707-G-A
gnomAD v4: 2-84425707-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425707G>A , CM000664.2:g.84425707G>A GRCh38
NC_000002.11:g.84652831G>A , CM000664.1:g.84652831G>A GRCh37
NC_000002.10:g.84506342G>A NCBI36
NG_016755.1:g.38756C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.826-104C>T MANE Select ENSP00000377446.2:n.826-104C>T
ENST00000651342.1:c.*266-104C>T ENSP00000498471.1:n.*266-104C>T
ENST00000393868.6:c.826-104C>T ENSP00000377446.2:n.826-104C>T
ENST00000484365.1:n.1230C>T
ENST00000487809.1:n.573-104C>T
ENST00000491123.5:n.672-104C>T
NM_003849.3:c.826-104C>T NP_003840.2:n.826-104C>T
NM_003849.4:c.826-104C>T MANE Select NP_003840.2:n.826-104C>T