Canonical Allele Identifier: CA1736133
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs758273327
ExAC: 2:84652603 G / A
gnomAD v2: 2-84652603-G-A
gnomAD v3: 2-84425479-G-A
gnomAD v4: 2-84425479-G-A
MyVariant Identifiers: chr2:g.84652603G>A (hg19) chr2:g.84425479G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425479G>A , CM000664.2:g.84425479G>A GRCh38
NC_000002.11:g.84652603G>A , CM000664.1:g.84652603G>A GRCh37
NC_000002.10:g.84506114G>A NCBI36
NG_016755.1:g.38984C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.950C>T MANE Select ENSP00000377446.2:p.Ala317Val
ENST00000651342.1:c.*390C>T ENSP00000498471.1:n.*390C>T
ENST00000393868.6:c.950C>T ENSP00000377446.2:p.Ala317Val
ENST00000484365.1:n.1458C>T
ENST00000487809.1:n.697C>T
ENST00000491123.5:n.796C>T
NM_003849.3:c.950C>T NP_003840.2:p.Ala317Val
NM_003849.4:c.950C>T MANE Select NP_003840.2:p.Ala317Val
Search 100 bp 5'
Search 100 bp 3'