Canonical Allele Identifier: CA375693937
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352604T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352604T>G , CM000671.2:g.133352604T>G GRCh38
NC_000009.10:g.135209280T>G NCBI36
NG_008477.1:g.8903A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.593A>C MANE Select ENSP00000361042.3:p.Glu198Ala
ENST00000371974.7:c.593A>C ENSP00000361042.3:p.Glu198Ala
ENST00000437995.1:n.503A>C
ENST00000495952.5:n.583A>C
ENST00000615505.4:c.266A>C ENSP00000482067.1:p.Glu89Ala
NM_001280787.1:c.266A>C NP_001267716.1:p.Glu89Ala
NM_003172.3:c.593A>C NP_003163.1:p.Glu198Ala
XM_011518942.1:c.266A>C XP_011517244.1:p.Glu89Ala
NM_003172.4:c.593A>C MANE Select NP_003163.1:p.Glu198Ala