Canonical Allele Identifier: CA1882632704
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs2130002112
gnomAD v4: 9-133351865-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351865T>A , CM000671.2:g.133351865T>A GRCh38
NC_000009.10:g.135208541T>A NCBI36
NG_008477.1:g.9642A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.*48A>T MANE Select ENSP00000361042.3:n.*48A>T
ENST00000371974.7:c.*48A>T ENSP00000361042.3:n.*48A>T
ENST00000615505.4:c.*48A>T ENSP00000482067.1:n.*48A>T
NM_001280787.1:c.*48A>T NP_001267716.1:n.*48A>T
NM_003172.3:c.*48A>T NP_003163.1:n.*48A>T
XM_011518942.1:c.*48A>T XP_011517244.1:n.*48A>T
NM_003172.4:c.*48A>T MANE Select NP_003163.1:n.*48A>T
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