Canonical Allele Identifier: CA427118794
Gene: SUCLG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.84652704C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425580C>G , CM000664.2:g.84425580C>G GRCh38
NC_000002.11:g.84652704C>G , CM000664.1:g.84652704C>G GRCh37
NC_000002.10:g.84506215C>G NCBI36
NG_016755.1:g.38883G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.849G>C MANE Select ENSP00000377446.2:p.Val283=
ENST00000651342.1:c.*289G>C ENSP00000498471.1:n.*289G>C
ENST00000393868.6:c.849G>C ENSP00000377446.2:p.Val283=
ENST00000484365.1:n.1357G>C
ENST00000487809.1:n.596G>C
ENST00000491123.5:n.695G>C
NM_003849.3:c.849G>C NP_003840.2:p.Val283=
NM_003849.4:c.849G>C MANE Select NP_003840.2:p.Val283=