Canonical Allele Identifier: CA375694214
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133353794-T-C
MyVariant Identifiers: chr9:g.133353794T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353794T>C , CM000671.2:g.133353794T>C GRCh38
NC_000009.10:g.135210470T>C NCBI36
NG_008477.1:g.7713A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.470A>G MANE Select ENSP00000361042.3:p.Gln157Arg
ENST00000371974.7:c.470A>G ENSP00000361042.3:p.Gln157Arg
ENST00000437995.1:n.416A>G
ENST00000495952.5:n.460A>G
ENST00000615505.4:c.143A>G ENSP00000482067.1:p.Gln48Arg
NM_001280787.1:c.143A>G NP_001267716.1:p.Gln48Arg
NM_003172.3:c.470A>G NP_003163.1:p.Gln157Arg
XM_011518942.1:c.143A>G XP_011517244.1:p.Gln48Arg
NM_003172.4:c.470A>G MANE Select NP_003163.1:p.Gln157Arg
Search 100 bp 5'
Search 100 bp 3'