Canonical Allele Identifier: CA2692340458
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133353793-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353793C>T , CM000671.2:g.133353793C>T GRCh38
NC_000009.10:g.135210469C>T NCBI36
NG_008477.1:g.7714G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.471G>A MANE Select ENSP00000361042.3:p.Gln157=
ENST00000371974.7:c.471G>A ENSP00000361042.3:p.Gln157=
ENST00000437995.1:n.417G>A
ENST00000495952.5:n.461G>A
ENST00000615505.4:c.144G>A ENSP00000482067.1:p.Gln48=
NM_001280787.1:c.144G>A NP_001267716.1:p.Gln48=
NM_003172.3:c.471G>A NP_003163.1:p.Gln157=
XM_011518942.1:c.144G>A XP_011517244.1:p.Gln48=
NM_003172.4:c.471G>A MANE Select NP_003163.1:p.Gln157=
Search 100 bp 5'
Search 100 bp 3'