Canonical Allele Identifier: CA375693604

Gene: SURF1

Linked Data

• MyVariant Identifiers: chr9:g.133352449A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352449A>T , CM000671.2:g.133352449A>T	GRCh38
NC_000009.10:g.135209125A>T	NCBI36
NG_008477.1:g.9058T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.748T>A MANE Select	ENSP00000361042.3:p.Phe250Ile
ENST00000371974.7:c.748T>A	ENSP00000361042.3:p.Phe250Ile
ENST00000437995.1:n.658T>A
ENST00000495952.5:n.738T>A
ENST00000615505.4:c.421T>A	ENSP00000482067.1:p.Phe141Ile
NM_001280787.1:c.421T>A	NP_001267716.1:p.Phe141Ile
NM_003172.3:c.748T>A	NP_003163.1:p.Phe250Ile
XM_011518942.1:c.421T>A	XP_011517244.1:p.Phe141Ile
NM_003172.4:c.748T>A MANE Select	NP_003163.1:p.Phe250Ile