Canonical Allele Identifier: CA2692367243
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133351796-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351796G>T , CM000671.2:g.133351796G>T GRCh38
NC_000009.10:g.135208472G>T NCBI36
NG_008477.1:g.9711C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.*117C>A MANE Select ENSP00000361042.3:n.*117C>A
ENST00000371974.7:c.*117C>A ENSP00000361042.3:n.*117C>A
NM_003172.4:c.*117C>A MANE Select NP_003163.1:n.*117C>A
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