Canonical Allele Identifier: CA200832300
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs2130006796
gnomAD v4: 9-133352429-G-T
MyVariant Identifiers: chr9:g.133352429G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352429G>T , CM000671.2:g.133352429G>T GRCh38
NC_000009.10:g.135209105G>T NCBI36
NG_008477.1:g.9078C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.751+17C>A MANE Select ENSP00000361042.3:n.751+17C>A
ENST00000371974.7:c.751+17C>A ENSP00000361042.3:n.751+17C>A
ENST00000437995.1:n.661+17C>A
ENST00000495952.5:n.741+17C>A
ENST00000615505.4:c.424+17C>A ENSP00000482067.1:n.424+17C>A
NM_001280787.1:c.424+17C>A NP_001267716.1:n.424+17C>A
NM_003172.3:c.751+17C>A NP_003163.1:n.751+17C>A
XM_011518942.1:c.424+17C>A XP_011517244.1:n.424+17C>A
NM_003172.4:c.751+17C>A MANE Select NP_003163.1:n.751+17C>A
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