Canonical Allele Identifier: CA375694397
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133353882G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353882G>T , CM000671.2:g.133353882G>T GRCh38
NC_000009.10:g.135210558G>T NCBI36
NG_008477.1:g.7625C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.382C>A MANE Select ENSP00000361042.3:p.His128Asn
ENST00000371974.7:c.382C>A ENSP00000361042.3:p.His128Asn
ENST00000437995.1:n.328C>A
ENST00000495952.5:n.372C>A
ENST00000615505.4:c.55C>A ENSP00000482067.1:p.His19Asn
NM_001280787.1:c.55C>A NP_001267716.1:p.His19Asn
NM_003172.3:c.382C>A NP_003163.1:p.His128Asn
XM_011518942.1:c.55C>A XP_011517244.1:p.His19Asn
NM_003172.4:c.382C>A MANE Select NP_003163.1:p.His128Asn
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