Canonical Allele Identifier: CA1882634630
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1836469252
gnomAD v4: 9-133352826-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352826A>G , CM000671.2:g.133352826A>G GRCh38
NC_000009.10:g.135209502A>G NCBI36
NG_008477.1:g.8681T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.516-60T>C MANE Select ENSP00000361042.3:n.516-60T>C
ENST00000371974.7:c.516-60T>C ENSP00000361042.3:n.516-60T>C
ENST00000437995.1:n.462-96T>C
ENST00000495952.5:n.506-60T>C
ENST00000615505.4:c.189-60T>C ENSP00000482067.1:n.189-60T>C
NM_001280787.1:c.189-60T>C NP_001267716.1:n.189-60T>C
NM_003172.3:c.516-60T>C NP_003163.1:n.516-60T>C
XM_011518942.1:c.189-60T>C XP_011517244.1:n.189-60T>C
NM_003172.4:c.516-60T>C MANE Select NP_003163.1:n.516-60T>C
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