Canonical Allele Identifier: CA2786166151
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352594C>G , CM000671.2:g.133352594C>G GRCh38
NC_000009.10:g.135209270C>G NCBI36
NG_008477.1:g.8913G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.603G>C MANE Select ENSP00000361042.3:p.Val201=
ENST00000371974.7:c.603G>C ENSP00000361042.3:p.Val201=
ENST00000437995.1:n.513G>C
ENST00000495952.5:n.593G>C
ENST00000615505.4:c.276G>C ENSP00000482067.1:p.Val92=
NM_001280787.1:c.276G>C NP_001267716.1:p.Val92=
NM_003172.3:c.603G>C NP_003163.1:p.Val201=
XM_011518942.1:c.276G>C XP_011517244.1:p.Val92=
NM_003172.4:c.603G>C MANE Select NP_003163.1:p.Val201=