Canonical Allele Identifier: CA427118804
Gene: SUCLG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.84652716G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425592G>T , CM000664.2:g.84425592G>T GRCh38
NC_000002.11:g.84652716G>T , CM000664.1:g.84652716G>T GRCh37
NC_000002.10:g.84506227G>T NCBI36
NG_016755.1:g.38871C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.837C>A MANE Select ENSP00000377446.2:p.Ser279=
ENST00000651342.1:c.*277C>A ENSP00000498471.1:n.*277C>A
ENST00000393868.6:c.837C>A ENSP00000377446.2:p.Ser279=
ENST00000484365.1:n.1345C>A
ENST00000487809.1:n.584C>A
ENST00000491123.5:n.683C>A
NM_003849.3:c.837C>A NP_003840.2:p.Ser279=
NM_003849.4:c.837C>A MANE Select NP_003840.2:p.Ser279=