Canonical Allele Identifier: CA375694082
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352753C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352753C>T , CM000671.2:g.133352753C>T GRCh38
NC_000009.10:g.135209429C>T NCBI36
NG_008477.1:g.8754G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.529G>A MANE Select ENSP00000361042.3:p.Val177Ile
ENST00000371974.7:c.529G>A ENSP00000361042.3:p.Val177Ile
ENST00000437995.1:n.462-23G>A
ENST00000495952.5:n.519G>A
ENST00000615505.4:c.202G>A ENSP00000482067.1:p.Val68Ile
NM_001280787.1:c.202G>A NP_001267716.1:p.Val68Ile
NM_003172.3:c.529G>A NP_003163.1:p.Val177Ile
XM_011518942.1:c.202G>A XP_011517244.1:p.Val68Ile
NM_003172.4:c.529G>A MANE Select NP_003163.1:p.Val177Ile