Canonical Allele Identifier: CA375693874
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1836455216
MyVariant Identifiers: chr9:g.133352574C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352574C>T , CM000671.2:g.133352574C>T GRCh38
NC_000009.10:g.135209250C>T NCBI36
NG_008477.1:g.8933G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.623G>A MANE Select ENSP00000361042.3:p.Arg208Lys
ENST00000371974.7:c.623G>A ENSP00000361042.3:p.Arg208Lys
ENST00000437995.1:n.533G>A
ENST00000495952.5:n.613G>A
ENST00000615505.4:c.296G>A ENSP00000482067.1:p.Arg99Lys
NM_001280787.1:c.296G>A NP_001267716.1:p.Arg99Lys
NM_003172.3:c.623G>A NP_003163.1:p.Arg208Lys
XM_011518942.1:c.296G>A XP_011517244.1:p.Arg99Lys
NM_003172.4:c.623G>A MANE Select NP_003163.1:p.Arg208Lys