Canonical Allele Identifier: CA375693714
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352503G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352503G>C , CM000671.2:g.133352503G>C GRCh38
NC_000009.10:g.135209179G>C NCBI36
NG_008477.1:g.9004C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.694C>G MANE Select ENSP00000361042.3:p.Leu232Val
ENST00000371974.7:c.694C>G ENSP00000361042.3:p.Leu232Val
ENST00000437995.1:n.604C>G
ENST00000495952.5:n.684C>G
ENST00000615505.4:c.367C>G ENSP00000482067.1:p.Leu123Val
NM_001280787.1:c.367C>G NP_001267716.1:p.Leu123Val
NM_003172.3:c.694C>G NP_003163.1:p.Leu232Val
XM_011518942.1:c.367C>G XP_011517244.1:p.Leu123Val
NM_003172.4:c.694C>G MANE Select NP_003163.1:p.Leu232Val
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