Canonical Allele Identifier: CA128719

Gene: SURF1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352518A>G , CM000671.2:g.133352518A>G	GRCh38
NC_000009.10:g.135209194A>G	NCBI36
NG_008477.1:g.8989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.679T>C MANE Select	ENSP00000361042.3:p.Trp227Arg
ENST00000371974.7:c.679T>C	ENSP00000361042.3:p.Trp227Arg
ENST00000437995.1:n.589T>C
ENST00000495952.5:n.669T>C
ENST00000615505.4:c.352T>C	ENSP00000482067.1:p.Trp118Arg
NM_001280787.1:c.352T>C	NP_001267716.1:p.Trp118Arg
NM_003172.3:c.679T>C	NP_003163.1:p.Trp227Arg
XM_011518942.1:c.352T>C	XP_011517244.1:p.Trp118Arg
NM_003172.4:c.679T>C MANE Select	NP_003163.1:p.Trp227Arg