Canonical Allele Identifier: CA2692367521
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133351891-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351891C>G , CM000671.2:g.133351891C>G GRCh38
NC_000009.10:g.135208567C>G NCBI36
NG_008477.1:g.9616G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.*22G>C MANE Select ENSP00000361042.3:n.*22G>C
ENST00000371974.7:c.*22G>C ENSP00000361042.3:n.*22G>C
ENST00000495952.5:n.915G>C
ENST00000615505.4:c.*22G>C ENSP00000482067.1:n.*22G>C
NM_001280787.1:c.*22G>C NP_001267716.1:n.*22G>C
NM_003172.3:c.*22G>C NP_003163.1:n.*22G>C
XM_011518942.1:c.*22G>C XP_011517244.1:n.*22G>C
NM_003172.4:c.*22G>C MANE Select NP_003163.1:n.*22G>C
Search 100 bp 5'
Search 100 bp 3'