Canonical Allele Identifier: CA860707513

Gene: SURF1

Linked Data

• dbSNP Id: rs1345516164
• gnomAD v3: 9-133352229-A-C
• gnomAD v4: 9-133352229-A-C
• MyVariant Identifiers: chr9:g.133352229A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352229A>C , CM000671.2:g.133352229A>C	GRCh38
NC_000009.10:g.135208905A>C	NCBI36
NG_008477.1:g.9278T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.752-87T>G MANE Select	ENSP00000361042.3:n.752-87T>G
ENST00000371974.7:c.752-87T>G	ENSP00000361042.3:n.752-87T>G
ENST00000437995.1:n.662-87T>G
ENST00000495952.5:n.742-87T>G
ENST00000615505.4:c.425-87T>G	ENSP00000482067.1:n.425-87T>G
NM_001280787.1:c.425-87T>G	NP_001267716.1:n.425-87T>G
NM_003172.3:c.752-87T>G	NP_003163.1:n.752-87T>G
XM_011518942.1:c.425-87T>G	XP_011517244.1:n.425-87T>G
NM_003172.4:c.752-87T>G MANE Select	NP_003163.1:n.752-87T>G