Canonical Allele Identifier: CA375693924

Gene: SURF1

Linked Data

• MyVariant Identifiers: chr9:g.133352598T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352598T>G , CM000671.2:g.133352598T>G	GRCh38
NC_000009.10:g.135209274T>G	NCBI36
NG_008477.1:g.8909A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.599A>C MANE Select	ENSP00000361042.3:p.Glu200Ala
ENST00000371974.7:c.599A>C	ENSP00000361042.3:p.Glu200Ala
ENST00000437995.1:n.509A>C
ENST00000495952.5:n.589A>C
ENST00000615505.4:c.272A>C	ENSP00000482067.1:p.Glu91Ala
NM_001280787.1:c.272A>C	NP_001267716.1:p.Glu91Ala
NM_003172.3:c.599A>C	NP_003163.1:p.Glu200Ala
XM_011518942.1:c.272A>C	XP_011517244.1:p.Glu91Ala
NM_003172.4:c.599A>C MANE Select	NP_003163.1:p.Glu200Ala