Canonical Allele Identifier: CA1882634058
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1836451398
gnomAD v4: 9-133352468-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352468G>T , CM000671.2:g.133352468G>T GRCh38
NC_000009.10:g.135209144G>T NCBI36
NG_008477.1:g.9039C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.729C>A MANE Select ENSP00000361042.3:p.Pro243=
ENST00000371974.7:c.729C>A ENSP00000361042.3:p.Pro243=
ENST00000437995.1:n.639C>A
ENST00000495952.5:n.719C>A
ENST00000615505.4:c.402C>A ENSP00000482067.1:p.Pro134=
NM_001280787.1:c.402C>A NP_001267716.1:p.Pro134=
NM_003172.3:c.729C>A NP_003163.1:p.Pro243=
XM_011518942.1:c.402C>A XP_011517244.1:p.Pro134=
NM_003172.4:c.729C>A MANE Select NP_003163.1:p.Pro243=
Search 100 bp 5'
Search 100 bp 3'