Canonical Allele Identifier: CA375694186
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs200358116 rs2130014456
gnomAD v3: 9-133353782-T-A
gnomAD v4: 9-133353782-T-A
MyVariant Identifiers: chr9:g.133353782T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.482A>T MANE Select ENSP00000361042.3:p.Tyr161Phe
ENST00000371974.7:c.482A>T ENSP00000361042.3:p.Tyr161Phe
ENST00000437995.1:n.428A>T
ENST00000495952.5:n.472A>T
ENST00000615505.4:c.155A>T ENSP00000482067.1:p.Tyr52Phe
NM_001280787.1:c.155A>T NP_001267716.1:p.Tyr52Phe
NM_003172.3:c.482A>T NP_003163.1:p.Tyr161Phe
XM_011518942.1:c.155A>T XP_011517244.1:p.Tyr52Phe
NM_003172.4:c.482A>T MANE Select NP_003163.1:p.Tyr161Phe
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