Canonical Allele Identifier: CA860706738
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs2130002197
gnomAD v4: 9-133351883-T-C
MyVariant Identifiers: chr9:g.133351883T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351883T>C , CM000671.2:g.133351883T>C GRCh38
NC_000009.10:g.135208559T>C NCBI36
NG_008477.1:g.9624A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.*30A>G MANE Select ENSP00000361042.3:n.*30A>G
ENST00000371974.7:c.*30A>G ENSP00000361042.3:n.*30A>G
ENST00000495952.5:n.923A>G
ENST00000615505.4:c.*30A>G ENSP00000482067.1:n.*30A>G
NM_001280787.1:c.*30A>G NP_001267716.1:n.*30A>G
NM_003172.3:c.*30A>G NP_003163.1:n.*30A>G
XM_011518942.1:c.*30A>G XP_011517244.1:n.*30A>G
NM_003172.4:c.*30A>G MANE Select NP_003163.1:n.*30A>G
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