Canonical Allele Identifier: CA324187
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215227
ClinVar RCV Id: RCV000199642 RCV002515441
dbSNP Id: rs782620122 rs2130002732
gnomAD v4: 9-133351927-T-G
MyVariant Identifiers: chr9:g.133351927T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351927T>G , CM000671.2:g.133351927T>G GRCh38
NC_000009.10:g.135208603T>G NCBI36
NG_008477.1:g.9580A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.889A>C MANE Select ENSP00000361042.3:p.Thr297Pro
ENST00000371974.7:c.889A>C ENSP00000361042.3:p.Thr297Pro
ENST00000437995.1:n.799A>C
ENST00000495952.5:n.879A>C
ENST00000615505.4:c.562A>C ENSP00000482067.1:p.Thr188Pro
NM_001280787.1:c.562A>C NP_001267716.1:p.Thr188Pro
NM_003172.3:c.889A>C NP_003163.1:p.Thr297Pro
XM_011518942.1:c.562A>C XP_011517244.1:p.Thr188Pro
NM_003172.4:c.889A>C MANE Select NP_003163.1:p.Thr297Pro
Search 100 bp 5'
Search 100 bp 3'