Canonical Allele Identifier: CA200831797
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1032041226
gnomAD v4: 9-133351766-G-A
MyVariant Identifiers: chr9:g.133351766G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351766G>A , CM000671.2:g.133351766G>A GRCh38
NC_000009.10:g.135208442G>A NCBI36
NG_008477.1:g.9741C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.*147C>T MANE Select ENSP00000361042.3:n.*147C>T
ENST00000371974.7:c.*147C>T ENSP00000361042.3:n.*147C>T
NM_003172.4:c.*147C>T MANE Select NP_003163.1:n.*147C>T
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