Canonical Allele Identifier: CA1129731419

Gene: SURF1

Linked Data

• dbSNP Id: rs1836428938
• gnomAD v3: 9-133352052-G-C
• gnomAD v4: 9-133352052-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352052G>C , CM000671.2:g.133352052G>C	GRCh38
NC_000009.10:g.135208728G>C	NCBI36
NG_008477.1:g.9455C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.833+9C>G MANE Select	ENSP00000361042.3:n.833+9C>G
ENST00000371974.7:c.833+9C>G	ENSP00000361042.3:n.833+9C>G
ENST00000437995.1:n.743+9C>G
ENST00000495952.5:n.823+9C>G
ENST00000615505.4:c.506+9C>G	ENSP00000482067.1:n.506+9C>G
NM_001280787.1:c.506+9C>G	NP_001267716.1:n.506+9C>G
NM_003172.3:c.833+9C>G	NP_003163.1:n.833+9C>G
XM_011518942.1:c.506+9C>G	XP_011517244.1:n.506+9C>G
NM_003172.4:c.833+9C>G MANE Select	NP_003163.1:n.833+9C>G