Canonical Allele Identifier: CA375693676
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352484A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.713T>A MANE Select ENSP00000361042.3:p.Ile238Asn
ENST00000371974.7:c.713T>A ENSP00000361042.3:p.Ile238Asn
ENST00000437995.1:n.623T>A
ENST00000495952.5:n.703T>A
ENST00000615505.4:c.386T>A ENSP00000482067.1:p.Ile129Asn
NM_001280787.1:c.386T>A NP_001267716.1:p.Ile129Asn
NM_003172.3:c.713T>A NP_003163.1:p.Ile238Asn
XM_011518942.1:c.386T>A XP_011517244.1:p.Ile129Asn
NM_003172.4:c.713T>A MANE Select NP_003163.1:p.Ile238Asn