Canonical Allele Identifier: CA2692339978

Gene: SURF1

Linked Data

• gnomAD v4: 9-133352873-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352873T>C , CM000671.2:g.133352873T>C	GRCh38
NC_000009.10:g.135209549T>C	NCBI36
NG_008477.1:g.8634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.516-107A>G MANE Select	ENSP00000361042.3:n.516-107A>G
ENST00000371974.7:c.516-107A>G	ENSP00000361042.3:n.516-107A>G
ENST00000437995.1:n.462-143A>G
ENST00000495952.5:n.506-107A>G
ENST00000615505.4:c.189-107A>G	ENSP00000482067.1:n.189-107A>G
NM_001280787.1:c.189-107A>G	NP_001267716.1:n.189-107A>G
NM_003172.3:c.516-107A>G	NP_003163.1:n.516-107A>G
XM_011518942.1:c.189-107A>G	XP_011517244.1:n.189-107A>G
NM_003172.4:c.516-107A>G MANE Select	NP_003163.1:n.516-107A>G