Canonical Allele Identifier: CA347514610
Gene: SUCLG1 HGNC NCBI

Linked Data

gnomAD v4: 2-84425482-G-C
MyVariant Identifiers: chr2:g.84652606G>C (hg19) chr2:g.84425482G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425482G>C , CM000664.2:g.84425482G>C GRCh38
NC_000002.11:g.84652606G>C , CM000664.1:g.84652606G>C GRCh37
NC_000002.10:g.84506117G>C NCBI36
NG_016755.1:g.38981C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.947C>G MANE Select ENSP00000377446.2:p.Ser316Cys
ENST00000651342.1:c.*387C>G ENSP00000498471.1:n.*387C>G
ENST00000393868.6:c.947C>G ENSP00000377446.2:p.Ser316Cys
ENST00000484365.1:n.1455C>G
ENST00000487809.1:n.694C>G
ENST00000491123.5:n.793C>G
NM_003849.3:c.947C>G NP_003840.2:p.Ser316Cys
NM_003849.4:c.947C>G MANE Select NP_003840.2:p.Ser316Cys
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Search 100 bp 3'