Canonical Allele Identifier: CA2697558166
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2753436
ClinVar RCV Id: RCV003509967

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353805G>T , CM000671.2:g.133353805G>T GRCh38
NC_000009.10:g.135210481G>T NCBI36
NG_008477.1:g.7702C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.459C>A MANE Select ENSP00000361042.3:p.Ser153=
ENST00000371974.7:c.459C>A ENSP00000361042.3:p.Ser153=
ENST00000437995.1:n.405C>A
ENST00000495952.5:n.449C>A
ENST00000615505.4:c.132C>A ENSP00000482067.1:p.Ser44=
NM_001280787.1:c.132C>A NP_001267716.1:p.Ser44=
NM_003172.3:c.459C>A NP_003163.1:p.Ser153=
XM_011518942.1:c.132C>A XP_011517244.1:p.Ser44=
NM_003172.4:c.459C>A MANE Select NP_003163.1:p.Ser153=