Canonical Allele Identifier: CA375693847
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352562G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352562G>T , CM000671.2:g.133352562G>T GRCh38
NC_000009.10:g.135209238G>T NCBI36
NG_008477.1:g.8945C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.635C>A MANE Select ENSP00000361042.3:p.Thr212Asn
ENST00000371974.7:c.635C>A ENSP00000361042.3:p.Thr212Asn
ENST00000437995.1:n.545C>A
ENST00000495952.5:n.625C>A
ENST00000615505.4:c.308C>A ENSP00000482067.1:p.Thr103Asn
NM_001280787.1:c.308C>A NP_001267716.1:p.Thr103Asn
NM_003172.3:c.635C>A NP_003163.1:p.Thr212Asn
XM_011518942.1:c.308C>A XP_011517244.1:p.Thr103Asn
NM_003172.4:c.635C>A MANE Select NP_003163.1:p.Thr212Asn