Canonical Allele Identifier: CA375693865
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352571A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352571A>C , CM000671.2:g.133352571A>C GRCh38
NC_000009.10:g.135209247A>C NCBI36
NG_008477.1:g.8936T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.626T>G MANE Select ENSP00000361042.3:p.Leu209Arg
ENST00000371974.7:c.626T>G ENSP00000361042.3:p.Leu209Arg
ENST00000437995.1:n.536T>G
ENST00000495952.5:n.616T>G
ENST00000615505.4:c.299T>G ENSP00000482067.1:p.Leu100Arg
NM_001280787.1:c.299T>G NP_001267716.1:p.Leu100Arg
NM_003172.3:c.626T>G NP_003163.1:p.Leu209Arg
XM_011518942.1:c.299T>G XP_011517244.1:p.Leu100Arg
NM_003172.4:c.626T>G MANE Select NP_003163.1:p.Leu209Arg