Canonical Allele Identifier: CA1736163
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs761077770
gnomAD v2: 2-84652778-C-T
gnomAD v3: 2-84425654-C-T
gnomAD v4: 2-84425654-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425654C>T , CM000664.2:g.84425654C>T GRCh38
NC_000002.11:g.84652778C>T , CM000664.1:g.84652778C>T GRCh37
NC_000002.10:g.84506289C>T NCBI36
NG_016755.1:g.38809G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.826-51G>A MANE Select ENSP00000377446.2:n.826-51G>A
ENST00000651342.1:c.*266-51G>A ENSP00000498471.1:n.*266-51G>A
ENST00000393868.6:c.826-51G>A ENSP00000377446.2:n.826-51G>A
ENST00000484365.1:n.1283G>A
ENST00000487809.1:n.573-51G>A
ENST00000491123.5:n.672-51G>A
NM_003849.3:c.826-51G>A NP_003840.2:n.826-51G>A
NM_003849.4:c.826-51G>A MANE Select NP_003840.2:n.826-51G>A