Canonical Allele Identifier: CA375694236
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133353806-G-A
MyVariant Identifiers: chr9:g.133353806G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353806G>A , CM000671.2:g.133353806G>A GRCh38
NC_000009.10:g.135210482G>A NCBI36
NG_008477.1:g.7701C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.458C>T MANE Select ENSP00000361042.3:p.Ser153Phe
ENST00000371974.7:c.458C>T ENSP00000361042.3:p.Ser153Phe
ENST00000437995.1:n.404C>T
ENST00000495952.5:n.448C>T
ENST00000615505.4:c.131C>T ENSP00000482067.1:p.Ser44Phe
NM_001280787.1:c.131C>T NP_001267716.1:p.Ser44Phe
NM_003172.3:c.458C>T NP_003163.1:p.Ser153Phe
XM_011518942.1:c.131C>T XP_011517244.1:p.Ser44Phe
NM_003172.4:c.458C>T MANE Select NP_003163.1:p.Ser153Phe
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