Canonical Allele Identifier: CA1882632658
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1379623129
gnomAD v4: 9-133351827-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351827A>G , CM000671.2:g.133351827A>G GRCh38
NC_000009.10:g.135208503A>G NCBI36
NG_008477.1:g.9680T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.*86T>C MANE Select ENSP00000361042.3:n.*86T>C
ENST00000371974.7:c.*86T>C ENSP00000361042.3:n.*86T>C
ENST00000615505.4:c.*86T>C ENSP00000482067.1:n.*86T>C
NM_001280787.1:c.*86T>C NP_001267716.1:n.*86T>C
NM_003172.3:c.*86T>C NP_003163.1:n.*86T>C
XM_011518942.1:c.*86T>C XP_011517244.1:n.*86T>C
NM_003172.4:c.*86T>C MANE Select NP_003163.1:n.*86T>C
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