Canonical Allele Identifier: CA375693917
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352596C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352596C>A , CM000671.2:g.133352596C>A GRCh38
NC_000009.10:g.135209272C>A NCBI36
NG_008477.1:g.8911G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.601G>T MANE Select ENSP00000361042.3:p.Val201Leu
ENST00000371974.7:c.601G>T ENSP00000361042.3:p.Val201Leu
ENST00000437995.1:n.511G>T
ENST00000495952.5:n.591G>T
ENST00000615505.4:c.274G>T ENSP00000482067.1:p.Val92Leu
NM_001280787.1:c.274G>T NP_001267716.1:p.Val92Leu
NM_003172.3:c.601G>T NP_003163.1:p.Val201Leu
XM_011518942.1:c.274G>T XP_011517244.1:p.Val92Leu
NM_003172.4:c.601G>T MANE Select NP_003163.1:p.Val201Leu