Canonical Allele Identifier: CA200832370
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 526796
ClinVar RCV Id: RCV000631413 RCV003432659
dbSNP Id: rs373154583 rs2130007534
gnomAD v3: 9-133352510-A-G
gnomAD v4: 9-133352510-A-G
MyVariant Identifiers: chr9:g.133352510A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352510A>G , CM000671.2:g.133352510A>G GRCh38
NC_000009.10:g.135209186A>G NCBI36
NG_008477.1:g.8997T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.687T>C MANE Select ENSP00000361042.3:p.Tyr229=
ENST00000371974.7:c.687T>C ENSP00000361042.3:p.Tyr229=
ENST00000437995.1:n.597T>C
ENST00000495952.5:n.677T>C
ENST00000615505.4:c.360T>C ENSP00000482067.1:p.Tyr120=
NM_001280787.1:c.360T>C NP_001267716.1:p.Tyr120=
NM_003172.3:c.687T>C NP_003163.1:p.Tyr229=
XM_011518942.1:c.360T>C XP_011517244.1:p.Tyr120=
NM_003172.4:c.687T>C MANE Select NP_003163.1:p.Tyr229=
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