Canonical Allele Identifier: CA200831829
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1024870061
gnomAD v3: 9-133351872-A-G
gnomAD v4: 9-133351872-A-G
MyVariant Identifiers: chr9:g.133351872A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351872A>G , CM000671.2:g.133351872A>G GRCh38
NC_000009.10:g.135208548A>G NCBI36
NG_008477.1:g.9635T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.*41T>C MANE Select ENSP00000361042.3:n.*41T>C
ENST00000371974.7:c.*41T>C ENSP00000361042.3:n.*41T>C
ENST00000615505.4:c.*41T>C ENSP00000482067.1:n.*41T>C
NM_001280787.1:c.*41T>C NP_001267716.1:n.*41T>C
NM_003172.3:c.*41T>C NP_003163.1:n.*41T>C
XM_011518942.1:c.*41T>C XP_011517244.1:n.*41T>C
NM_003172.4:c.*41T>C MANE Select NP_003163.1:n.*41T>C
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