Canonical Allele Identifier: CA200832350
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs2130007248
MyVariant Identifiers: chr9:g.133352488T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352488T>C , CM000671.2:g.133352488T>C GRCh38
NC_000009.10:g.135209164T>C NCBI36
NG_008477.1:g.9019A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.709A>G MANE Select ENSP00000361042.3:p.Arg237Gly
ENST00000371974.7:c.709A>G ENSP00000361042.3:p.Arg237Gly
ENST00000437995.1:n.619A>G
ENST00000495952.5:n.699A>G
ENST00000615505.4:c.382A>G ENSP00000482067.1:p.Arg128Gly
NM_001280787.1:c.382A>G NP_001267716.1:p.Arg128Gly
NM_003172.3:c.709A>G NP_003163.1:p.Arg237Gly
XM_011518942.1:c.382A>G XP_011517244.1:p.Arg128Gly
NM_003172.4:c.709A>G MANE Select NP_003163.1:p.Arg237Gly