Canonical Allele Identifier: CA2720637808

Gene: SURF1

Linked Data

• dbSNP Id: rs2130011181

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352978A>G , CM000671.2:g.133352978A>G	GRCh38
NC_000009.10:g.135209654A>G	NCBI36
NG_008477.1:g.8529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.516-212T>C MANE Select	ENSP00000361042.3:n.516-212T>C
ENST00000371974.7:c.516-212T>C	ENSP00000361042.3:n.516-212T>C
ENST00000437995.1:n.462-248T>C
ENST00000495952.5:n.506-212T>C
ENST00000615505.4:c.189-212T>C	ENSP00000482067.1:n.189-212T>C
NM_001280787.1:c.189-212T>C	NP_001267716.1:n.189-212T>C
NM_003172.3:c.516-212T>C	NP_003163.1:n.516-212T>C
XM_011518942.1:c.189-212T>C	XP_011517244.1:n.189-212T>C
NM_003172.4:c.516-212T>C MANE Select	NP_003163.1:n.516-212T>C