Canonical Allele Identifier: CA860707670
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1236169905
gnomAD v4: 9-133352388-A-T
MyVariant Identifiers: chr9:g.133352388A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352388A>T , CM000671.2:g.133352388A>T GRCh38
NC_000009.10:g.135209064A>T NCBI36
NG_008477.1:g.9119T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.751+58T>A MANE Select ENSP00000361042.3:n.751+58T>A
ENST00000371974.7:c.751+58T>A ENSP00000361042.3:n.751+58T>A
ENST00000437995.1:n.661+58T>A
ENST00000495952.5:n.741+58T>A
ENST00000615505.4:c.424+58T>A ENSP00000482067.1:n.424+58T>A
NM_001280787.1:c.424+58T>A NP_001267716.1:n.424+58T>A
NM_003172.3:c.751+58T>A NP_003163.1:n.751+58T>A
XM_011518942.1:c.424+58T>A XP_011517244.1:n.424+58T>A
NM_003172.4:c.751+58T>A MANE Select NP_003163.1:n.751+58T>A
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