Canonical Allele Identifier: CA200831794
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs587770310 rs2130001860
gnomAD v3: 9-133351765-T-C
gnomAD v4: 9-133351765-T-C
MyVariant Identifiers: chr9:g.133351765T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351765T>C , CM000671.2:g.133351765T>C GRCh38
NC_000009.10:g.135208441T>C NCBI36
NG_008477.1:g.9742A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.*148A>G MANE Select ENSP00000361042.3:n.*148A>G
ENST00000371974.7:c.*148A>G ENSP00000361042.3:n.*148A>G
NM_003172.4:c.*148A>G MANE Select NP_003163.1:n.*148A>G
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