Canonical Allele Identifier: CA860708309

Gene: SURF1

Linked Data

• dbSNP Id: rs2130009323
• gnomAD v4: 9-133352703-C-T
• MyVariant Identifiers: chr9:g.133352703C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.579G>A MANE Select	ENSP00000361042.3:p.Gln193=
ENST00000371974.7:c.579G>A	ENSP00000361042.3:p.Gln193=
ENST00000437995.1:n.489G>A
ENST00000495952.5:n.569G>A
ENST00000615505.4:c.252G>A	ENSP00000482067.1:p.Gln84=
NM_001280787.1:c.252G>A	NP_001267716.1:p.Gln84=
NM_003172.3:c.579G>A	NP_003163.1:p.Gln193=
XM_011518942.1:c.252G>A	XP_011517244.1:p.Gln84=
NM_003172.4:c.579G>A MANE Select	NP_003163.1:p.Gln193=