Canonical Allele Identifier: CA375693720
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352506C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352506C>A , CM000671.2:g.133352506C>A GRCh38
NC_000009.10:g.135209182C>A NCBI36
NG_008477.1:g.9001G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.691G>T MANE Select ENSP00000361042.3:p.Asp231Tyr
ENST00000371974.7:c.691G>T ENSP00000361042.3:p.Asp231Tyr
ENST00000437995.1:n.601G>T
ENST00000495952.5:n.681G>T
ENST00000615505.4:c.364G>T ENSP00000482067.1:p.Asp122Tyr
NM_001280787.1:c.364G>T NP_001267716.1:p.Asp122Tyr
NM_003172.3:c.691G>T NP_003163.1:p.Asp231Tyr
XM_011518942.1:c.364G>T XP_011517244.1:p.Asp122Tyr
NM_003172.4:c.691G>T MANE Select NP_003163.1:p.Asp231Tyr