Canonical Allele Identifier: CA1882632776
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs369285519
gnomAD v4: 9-133351907-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351907G>T , CM000671.2:g.133351907G>T GRCh38
NC_000009.10:g.135208583G>T NCBI36
NG_008477.1:g.9600C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.*6C>A MANE Select ENSP00000361042.3:n.*6C>A
ENST00000371974.7:c.*6C>A ENSP00000361042.3:n.*6C>A
ENST00000495952.5:n.899C>A
ENST00000615505.4:c.*6C>A ENSP00000482067.1:n.*6C>A
NM_001280787.1:c.*6C>A NP_001267716.1:n.*6C>A
NM_003172.3:c.*6C>A NP_003163.1:n.*6C>A
XM_011518942.1:c.*6C>A XP_011517244.1:n.*6C>A
NM_003172.4:c.*6C>A MANE Select NP_003163.1:n.*6C>A
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