Canonical Allele Identifier: CA200833049
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1349600
ClinVar RCV Id: RCV002047038
dbSNP Id: rs782197597 rs2130015130
gnomAD v3: 9-133353884-T-G
gnomAD v4: 9-133353884-T-G
MyVariant Identifiers: chr9:g.133353884T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353884T>G , CM000671.2:g.133353884T>G GRCh38
NC_000009.10:g.135210560T>G NCBI36
NG_008477.1:g.7623A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.380A>C MANE Select ENSP00000361042.3:p.Asp127Ala
ENST00000371974.7:c.380A>C ENSP00000361042.3:p.Asp127Ala
ENST00000437995.1:n.326A>C
ENST00000495952.5:n.370A>C
ENST00000615505.4:c.53A>C ENSP00000482067.1:p.Asp18Ala
NM_001280787.1:c.53A>C NP_001267716.1:p.Asp18Ala
NM_003172.3:c.380A>C NP_003163.1:p.Asp127Ala
XM_011518942.1:c.53A>C XP_011517244.1:p.Asp18Ala
NM_003172.4:c.380A>C MANE Select NP_003163.1:p.Asp127Ala
Search 100 bp 5'
Search 100 bp 3'