Canonical Allele Identifier: CA375694105
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352764A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352764A>G , CM000671.2:g.133352764A>G GRCh38
NC_000009.10:g.135209440A>G NCBI36
NG_008477.1:g.8743T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.518T>C MANE Select ENSP00000361042.3:p.Val173Ala
ENST00000371974.7:c.518T>C ENSP00000361042.3:p.Val173Ala
ENST00000437995.1:n.462-34T>C
ENST00000495952.5:n.508T>C
ENST00000615505.4:c.191T>C ENSP00000482067.1:p.Val64Ala
NM_001280787.1:c.191T>C NP_001267716.1:p.Val64Ala
NM_003172.3:c.518T>C NP_003163.1:p.Val173Ala
XM_011518942.1:c.191T>C XP_011517244.1:p.Val64Ala
NM_003172.4:c.518T>C MANE Select NP_003163.1:p.Val173Ala