Canonical Allele Identifier: CA1001856852
Gene: DIO1 HGNC NCBI

Linked Data

dbSNP Id: rs2235544
gnomAD v3: 1-53909897-C-G
gnomAD v4: 1-53909897-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53909897C>G , CM000663.2:g.53909897C>G GRCh38
NC_000001.10:g.54375570C>G , CM000663.1:g.54375570C>G GRCh37
NC_000001.9:g.54148158C>G NCBI36
NG_023306.1:g.20710C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361921.8:c.682-34C>G MANE Select ENSP00000354643.4:n.682-34C>G
ENST00000322679.10:c.482-34C>G ENSP00000323198.6:n.482-34C>G
ENST00000361921.7:c.682-34C>G ENSP00000354643.3:n.682-34C>G
ENST00000388876.3:c.538-34C>G ENSP00000373528.3:n.538-34C>G
ENST00000524406.5:c.295-34C>G ENSP00000434152.1:n.295-34C>G
ENST00000525044.5:c.*124-34C>G ENSP00000436550.1:n.*124-34C>G
ENST00000525202.5:c.490-34C>G ENSP00000435725.1:n.490-34C>G
ENST00000527060.5:c.*422-34C>G ENSP00000435030.1:n.*422-34C>G
ENST00000528946.5:c.*60-34C>G ENSP00000433891.1:n.*60-34C>G
ENST00000529329.1:c.455-34C>G ENSP00000432700.1:n.455-34C>G
ENST00000530084.5:c.*324-34C>G ENSP00000431999.1:n.*324-34C>G
ENST00000532493.5:c.338-34C>G ENSP00000434758.1:n.338-34C>G
ENST00000610607.4:c.*341-34C>G ENSP00000483367.1:n.*341-34C>G
ENST00000613679.4:c.679-34C>G ENSP00000479755.1:n.679-34C>G
ENST00000617230.2:c.479-34C>G ENSP00000481665.1:n.479-34C>G
NM_000792.5:c.682-34C>G NP_000783.2:n.682-34C>G
NM_001039715.1:c.538-34C>G NP_001034804.1:n.538-34C>G
NM_001039716.1:c.482-34C>G NP_001034805.1:n.482-34C>G
NM_213593.3:c.490-34C>G NP_998758.1:n.490-34C>G
NM_000792.6:c.682-34C>G NP_000783.2:n.682-34C>G
NM_001039715.2:c.538-34C>G NP_001034804.1:n.538-34C>G
NM_001039716.2:c.482-34C>G NP_001034805.1:n.482-34C>G
NM_001324316.1:c.338-34C>G NP_001311245.1:n.338-34C>G
NM_213593.4:c.490-34C>G NP_998758.1:n.490-34C>G
NR_136692.1:n.597-34C>G
NR_136693.1:n.623-34C>G
NM_000792.7:c.682-34C>G MANE Select NP_000783.2:n.682-34C>G
NM_001039715.3:c.538-34C>G NP_001034804.1:n.538-34C>G
NM_001039716.3:c.482-34C>G NP_001034805.1:n.482-34C>G
NM_001324316.2:c.338-34C>G NP_001311245.1:n.338-34C>G
NM_213593.5:c.490-34C>G NP_998758.1:n.490-34C>G
NR_136692.2:n.597-34C>G
NR_136693.2:n.623-34C>G