Canonical Allele Identifier: CA200832976
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2180061
ClinVar RCV Id: RCV002619064
dbSNP Id: rs200358116 rs2130014456
gnomAD v3: 9-133353782-T-C
gnomAD v4: 9-133353782-T-C
MyVariant Identifiers: chr9:g.133353782T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353782T>C , CM000671.2:g.133353782T>C GRCh38
NC_000009.10:g.135210458T>C NCBI36
NG_008477.1:g.7725A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.482A>G MANE Select ENSP00000361042.3:p.Tyr161Cys
ENST00000371974.7:c.482A>G ENSP00000361042.3:p.Tyr161Cys
ENST00000437995.1:n.428A>G
ENST00000495952.5:n.472A>G
ENST00000615505.4:c.155A>G ENSP00000482067.1:p.Tyr52Cys
NM_001280787.1:c.155A>G NP_001267716.1:p.Tyr52Cys
NM_003172.3:c.482A>G NP_003163.1:p.Tyr161Cys
XM_011518942.1:c.155A>G XP_011517244.1:p.Tyr52Cys
NM_003172.4:c.482A>G MANE Select NP_003163.1:p.Tyr161Cys
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