Canonical Allele Identifier: CA375693674
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs2130007225
gnomAD v4: 9-133352484-A-C
MyVariant Identifiers: chr9:g.133352484A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352484A>C , CM000671.2:g.133352484A>C GRCh38
NC_000009.10:g.135209160A>C NCBI36
NG_008477.1:g.9023T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.713T>G MANE Select ENSP00000361042.3:p.Ile238Ser
ENST00000371974.7:c.713T>G ENSP00000361042.3:p.Ile238Ser
ENST00000437995.1:n.623T>G
ENST00000495952.5:n.703T>G
ENST00000615505.4:c.386T>G ENSP00000482067.1:p.Ile129Ser
NM_001280787.1:c.386T>G NP_001267716.1:p.Ile129Ser
NM_003172.3:c.713T>G NP_003163.1:p.Ile238Ser
XM_011518942.1:c.386T>G XP_011517244.1:p.Ile129Ser
NM_003172.4:c.713T>G MANE Select NP_003163.1:p.Ile238Ser
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