Canonical Allele Identifier: CA375693705
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352498T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352498T>G , CM000671.2:g.133352498T>G GRCh38
NC_000009.10:g.135209174T>G NCBI36
NG_008477.1:g.9009A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.699A>C MANE Select ENSP00000361042.3:p.Glu233Asp
ENST00000371974.7:c.699A>C ENSP00000361042.3:p.Glu233Asp
ENST00000437995.1:n.609A>C
ENST00000495952.5:n.689A>C
ENST00000615505.4:c.372A>C ENSP00000482067.1:p.Glu124Asp
NM_001280787.1:c.372A>C NP_001267716.1:p.Glu124Asp
NM_003172.3:c.699A>C NP_003163.1:p.Glu233Asp
XM_011518942.1:c.372A>C XP_011517244.1:p.Glu124Asp
NM_003172.4:c.699A>C MANE Select NP_003163.1:p.Glu233Asp