Canonical Allele Identifier: CA2739265137
Gene: SURF1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352045G>A , CM000671.2:g.133352045G>A GRCh38
NC_000009.10:g.135208721G>A NCBI36
NG_008477.1:g.9462C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.833+16C>T MANE Select ENSP00000361042.3:n.833+16C>T
ENST00000371974.7:c.833+16C>T ENSP00000361042.3:n.833+16C>T
ENST00000437995.1:n.743+16C>T
ENST00000495952.5:n.823+16C>T
ENST00000615505.4:c.506+16C>T ENSP00000482067.1:n.506+16C>T
NM_001280787.1:c.506+16C>T NP_001267716.1:n.506+16C>T
NM_003172.3:c.833+16C>T NP_003163.1:n.833+16C>T
XM_011518942.1:c.506+16C>T XP_011517244.1:n.506+16C>T
NM_003172.4:c.833+16C>T MANE Select NP_003163.1:n.833+16C>T