Canonical Allele Identifier: CA375693309
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1836422037
MyVariant Identifiers: chr9:g.133351929C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351929C>A , CM000671.2:g.133351929C>A GRCh38
NC_000009.10:g.135208605C>A NCBI36
NG_008477.1:g.9578G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.887G>T MANE Select ENSP00000361042.3:p.Gly296Val
ENST00000371974.7:c.887G>T ENSP00000361042.3:p.Gly296Val
ENST00000437995.1:n.797G>T
ENST00000495952.5:n.877G>T
ENST00000615505.4:c.560G>T ENSP00000482067.1:p.Gly187Val
NM_001280787.1:c.560G>T NP_001267716.1:p.Gly187Val
NM_003172.3:c.887G>T NP_003163.1:p.Gly296Val
XM_011518942.1:c.560G>T XP_011517244.1:p.Gly187Val
NM_003172.4:c.887G>T MANE Select NP_003163.1:p.Gly296Val