Canonical Allele Identifier: CA122692
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12762
MyVariant Identifiers: chr9:g.133352446G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352446G>A , CM000671.2:g.133352446G>A GRCh38
NC_000009.10:g.135209122G>A NCBI36
NG_008477.1:g.9061C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.751C>T MANE Select ENSP00000361042.3:p.Gln251Ter
ENST00000371974.7:c.751C>T ENSP00000361042.3:p.Gln251Ter
ENST00000437995.1:n.661C>T
ENST00000495952.5:n.741C>T
ENST00000615505.4:c.424C>T ENSP00000482067.1:p.Gln142Ter
NM_001280787.1:c.424C>T NP_001267716.1:p.Gln142Ter
NM_003172.3:c.751C>T NP_003163.1:p.Gln251Ter
XM_011518942.1:c.424C>T XP_011517244.1:p.Gln142Ter
NM_003172.4:c.751C>T MANE Select NP_003163.1:p.Gln251Ter