Canonical Allele Identifier: CA2692339384
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133352652-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352652C>A , CM000671.2:g.133352652C>A GRCh38
NC_000009.10:g.135209328C>A NCBI36
NG_008477.1:g.8855G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.588+42G>T MANE Select ENSP00000361042.3:n.588+42G>T
ENST00000371974.7:c.588+42G>T ENSP00000361042.3:n.588+42G>T
ENST00000437995.1:n.498+42G>T
ENST00000495952.5:n.578+42G>T
ENST00000615505.4:c.261+42G>T ENSP00000482067.1:n.261+42G>T
NM_001280787.1:c.261+42G>T NP_001267716.1:n.261+42G>T
NM_003172.3:c.588+42G>T NP_003163.1:n.588+42G>T
XM_011518942.1:c.261+42G>T XP_011517244.1:n.261+42G>T
NM_003172.4:c.588+42G>T MANE Select NP_003163.1:n.588+42G>T
Search 100 bp 5'
Search 100 bp 3'