Canonical Allele Identifier: CA2692338828
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133352426-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352426T>G , CM000671.2:g.133352426T>G GRCh38
NC_000009.10:g.135209102T>G NCBI36
NG_008477.1:g.9081A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.751+20A>C MANE Select ENSP00000361042.3:n.751+20A>C
ENST00000371974.7:c.751+20A>C ENSP00000361042.3:n.751+20A>C
ENST00000437995.1:n.661+20A>C
ENST00000495952.5:n.741+20A>C
ENST00000615505.4:c.424+20A>C ENSP00000482067.1:n.424+20A>C
NM_001280787.1:c.424+20A>C NP_001267716.1:n.424+20A>C
NM_003172.3:c.751+20A>C NP_003163.1:n.751+20A>C
XM_011518942.1:c.424+20A>C XP_011517244.1:n.424+20A>C
NM_003172.4:c.751+20A>C MANE Select NP_003163.1:n.751+20A>C
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