Canonical Allele Identifier: CA200832355
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 913647
ClinVar RCV Id: RCV001167392
dbSNP Id: rs781807153 rs2130007305
gnomAD v4: 9-133352491-C-T
MyVariant Identifiers: chr9:g.133352491C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352491C>T , CM000671.2:g.133352491C>T GRCh38
NC_000009.10:g.135209167C>T NCBI36
NG_008477.1:g.9016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.706G>A MANE Select ENSP00000361042.3:p.Ala236Thr
ENST00000371974.7:c.706G>A ENSP00000361042.3:p.Ala236Thr
ENST00000437995.1:n.616G>A
ENST00000495952.5:n.696G>A
ENST00000615505.4:c.379G>A ENSP00000482067.1:p.Ala127Thr
NM_001280787.1:c.379G>A NP_001267716.1:p.Ala127Thr
NM_003172.3:c.706G>A NP_003163.1:p.Ala236Thr
XM_011518942.1:c.379G>A XP_011517244.1:p.Ala127Thr
NM_003172.4:c.706G>A MANE Select NP_003163.1:p.Ala236Thr
Search 100 bp 5'
Search 100 bp 3'