Canonical Allele Identifier: CA2840270573

Gene: SURF1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133353729C>A , CM000671.2:g.133353729C>A	GRCh38
NC_000009.10:g.135210405C>A	NCBI36
NG_008477.1:g.7778G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.515+20G>T MANE Select	ENSP00000361042.3:n.515+20G>T
ENST00000371974.7:c.515+20G>T	ENSP00000361042.3:n.515+20G>T
ENST00000437995.1:n.461+20G>T
ENST00000495952.5:n.505+20G>T
ENST00000615505.4:c.188+20G>T	ENSP00000482067.1:n.188+20G>T
NM_001280787.1:c.188+20G>T	NP_001267716.1:n.188+20G>T
NM_003172.3:c.515+20G>T	NP_003163.1:n.515+20G>T
XM_011518942.1:c.188+20G>T	XP_011517244.1:n.188+20G>T
NM_003172.4:c.515+20G>T MANE Select	NP_003163.1:n.515+20G>T