Canonical Allele Identifier: CA375693451
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133352074-A-G
MyVariant Identifiers: chr9:g.133352074A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352074A>G , CM000671.2:g.133352074A>G GRCh38
NC_000009.10:g.135208750A>G NCBI36
NG_008477.1:g.9433T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.820T>C MANE Select ENSP00000361042.3:p.Tyr274His
ENST00000371974.7:c.820T>C ENSP00000361042.3:p.Tyr274His
ENST00000437995.1:n.730T>C
ENST00000495952.5:n.810T>C
ENST00000615505.4:c.493T>C ENSP00000482067.1:p.Tyr165His
NM_001280787.1:c.493T>C NP_001267716.1:p.Tyr165His
NM_003172.3:c.820T>C NP_003163.1:p.Tyr274His
XM_011518942.1:c.493T>C XP_011517244.1:p.Tyr165His
NM_003172.4:c.820T>C MANE Select NP_003163.1:p.Tyr274His
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