Canonical Allele Identifier: CA427119103
Gene: SUCLG1 HGNC NCBI

Linked Data

gnomAD v4: 2-84431637-A-G
MyVariant Identifiers: chr2:g.84658761A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84431637A>G , CM000664.2:g.84431637A>G GRCh38
NC_000002.11:g.84658761A>G , CM000664.1:g.84658761A>G GRCh37
NC_000002.10:g.84512272A>G NCBI36
NG_016755.1:g.32826T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.696T>C MANE Select ENSP00000377446.2:p.Asn232=
ENST00000651342.1:c.*136T>C ENSP00000498471.1:n.*136T>C
ENST00000393868.6:c.696T>C ENSP00000377446.2:p.Asn232=
ENST00000487809.1:n.443T>C
ENST00000491123.5:n.542T>C
NM_003849.3:c.696T>C NP_003840.2:p.Asn232=
NM_003849.4:c.696T>C MANE Select NP_003840.2:p.Asn232=