Canonical Allele Identifier: CA200831850
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs2130002481
gnomAD v4: 9-133351912-G-A
MyVariant Identifiers: chr9:g.133351912G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351912G>A , CM000671.2:g.133351912G>A GRCh38
NC_000009.10:g.135208588G>A NCBI36
NG_008477.1:g.9595C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.*1C>T MANE Select ENSP00000361042.3:n.*1C>T
ENST00000371974.7:c.*1C>T ENSP00000361042.3:n.*1C>T
ENST00000495952.5:n.894C>T
ENST00000615505.4:c.*1C>T ENSP00000482067.1:n.*1C>T
NM_001280787.1:c.*1C>T NP_001267716.1:n.*1C>T
NM_003172.3:c.*1C>T NP_003163.1:n.*1C>T
XM_011518942.1:c.*1C>T XP_011517244.1:n.*1C>T
NM_003172.4:c.*1C>T MANE Select NP_003163.1:n.*1C>T
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