Canonical Allele Identifier: CA375693404
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133351977C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351977C>A , CM000671.2:g.133351977C>A GRCh38
NC_000009.10:g.135208653C>A NCBI36
NG_008477.1:g.9530G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.839G>T MANE Select ENSP00000361042.3:p.Gly280Val
ENST00000371974.7:c.839G>T ENSP00000361042.3:p.Gly280Val
ENST00000437995.1:n.749G>T
ENST00000495952.5:n.829G>T
ENST00000615505.4:c.512G>T ENSP00000482067.1:p.Gly171Val
NM_001280787.1:c.512G>T NP_001267716.1:p.Gly171Val
NM_003172.3:c.839G>T NP_003163.1:p.Gly280Val
XM_011518942.1:c.512G>T XP_011517244.1:p.Gly171Val
NM_003172.4:c.839G>T MANE Select NP_003163.1:p.Gly280Val