Canonical Allele Identifier: CA375693978

Gene: SURF1

Linked Data

• MyVariant Identifiers: chr9:g.133352703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352703C>A , CM000671.2:g.133352703C>A	GRCh38
NC_000009.10:g.135209379C>A	NCBI36
NG_008477.1:g.8804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.579G>T MANE Select	ENSP00000361042.3:p.Gln193His
ENST00000371974.7:c.579G>T	ENSP00000361042.3:p.Gln193His
ENST00000437995.1:n.489G>T
ENST00000495952.5:n.569G>T
ENST00000615505.4:c.252G>T	ENSP00000482067.1:p.Gln84His
NM_001280787.1:c.252G>T	NP_001267716.1:p.Gln84His
NM_003172.3:c.579G>T	NP_003163.1:p.Gln193His
XM_011518942.1:c.252G>T	XP_011517244.1:p.Gln84His
NM_003172.4:c.579G>T MANE Select	NP_003163.1:p.Gln193His