Canonical Allele Identifier: CA427118674
Gene: SUCLG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.84652602G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425478G>A , CM000664.2:g.84425478G>A GRCh38
NC_000002.11:g.84652602G>A , CM000664.1:g.84652602G>A GRCh37
NC_000002.10:g.84506113G>A NCBI36
NG_016755.1:g.38985C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.951C>T MANE Select ENSP00000377446.2:p.Ala317=
ENST00000651342.1:c.*391C>T ENSP00000498471.1:n.*391C>T
ENST00000393868.6:c.951C>T ENSP00000377446.2:p.Ala317=
ENST00000484365.1:n.1459C>T
ENST00000487809.1:n.698C>T
ENST00000491123.5:n.797C>T
NM_003849.3:c.951C>T NP_003840.2:p.Ala317=
NM_003849.4:c.951C>T MANE Select NP_003840.2:p.Ala317=