Canonical Allele Identifier: CA375694193
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133353785G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353785G>T , CM000671.2:g.133353785G>T GRCh38
NC_000009.10:g.135210461G>T NCBI36
NG_008477.1:g.7722C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.479C>A MANE Select ENSP00000361042.3:p.Ala160Asp
ENST00000371974.7:c.479C>A ENSP00000361042.3:p.Ala160Asp
ENST00000437995.1:n.425C>A
ENST00000495952.5:n.469C>A
ENST00000615505.4:c.152C>A ENSP00000482067.1:p.Ala51Asp
NM_001280787.1:c.152C>A NP_001267716.1:p.Ala51Asp
NM_003172.3:c.479C>A NP_003163.1:p.Ala160Asp
XM_011518942.1:c.152C>A XP_011517244.1:p.Ala51Asp
NM_003172.4:c.479C>A MANE Select NP_003163.1:p.Ala160Asp