Canonical Allele Identifier: CA375693993
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133352712T>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352712T>A , CM000671.2:g.133352712T>A GRCh38
NC_000009.10:g.135209388T>A NCBI36
NG_008477.1:g.8795A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.570A>T MANE Select ENSP00000361042.3:p.Glu190Asp
ENST00000371974.7:c.570A>T ENSP00000361042.3:p.Glu190Asp
ENST00000437995.1:n.480A>T
ENST00000495952.5:n.560A>T
ENST00000615505.4:c.243A>T ENSP00000482067.1:p.Glu81Asp
NM_001280787.1:c.243A>T NP_001267716.1:p.Glu81Asp
NM_003172.3:c.570A>T NP_003163.1:p.Glu190Asp
XM_011518942.1:c.243A>T XP_011517244.1:p.Glu81Asp
NM_003172.4:c.570A>T MANE Select NP_003163.1:p.Glu190Asp