Canonical Allele Identifier: CA1882632622
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1836416274
gnomAD v4: 9-133351799-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351799A>C , CM000671.2:g.133351799A>C GRCh38
NC_000009.10:g.135208475A>C NCBI36
NG_008477.1:g.9708T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.*114T>G MANE Select ENSP00000361042.3:n.*114T>G
ENST00000371974.7:c.*114T>G ENSP00000361042.3:n.*114T>G
NM_003172.4:c.*114T>G MANE Select NP_003163.1:n.*114T>G
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