Canonical Allele Identifier: CA2574376198

Gene: DIO1

Linked Data

• gnomAD v4: 1-53910038-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53910038G>A , CM000663.2:g.53910038G>A	GRCh38
NC_000001.10:g.54375711G>A , CM000663.1:g.54375711G>A	GRCh37
NC_000001.9:g.54148299G>A	NCBI36
NG_023306.1:g.20851G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361921.8:c.*39G>A MANE Select	ENSP00000354643.4:n.*39G>A
ENST00000322679.10:c.*103G>A	ENSP00000323198.6:n.*103G>A
ENST00000361921.7:c.*39G>A	ENSP00000354643.3:n.*39G>A
ENST00000525044.5:c.*231G>A	ENSP00000436550.1:n.*231G>A
ENST00000527060.5:c.*529G>A	ENSP00000435030.1:n.*529G>A
ENST00000528946.5:c.*167G>A	ENSP00000433891.1:n.*167G>A
ENST00000530084.5:c.*431G>A	ENSP00000431999.1:n.*431G>A
ENST00000610607.4:c.*448G>A	ENSP00000483367.1:n.*448G>A
ENST00000613679.4:c.*39G>A	ENSP00000479755.1:n.*39G>A
ENST00000617230.2:c.*103G>A	ENSP00000481665.1:n.*103G>A
NM_000792.5:c.*39G>A	NP_000783.2:n.*39G>A
NM_001039715.1:c.*39G>A	NP_001034804.1:n.*39G>A
NM_001039716.1:c.*103G>A	NP_001034805.1:n.*103G>A
NM_213593.3:c.*39G>A	NP_998758.1:n.*39G>A
NM_000792.6:c.*39G>A	NP_000783.2:n.*39G>A
NM_001039715.2:c.*39G>A	NP_001034804.1:n.*39G>A
NM_001039716.2:c.*103G>A	NP_001034805.1:n.*103G>A
NM_001324316.1:c.*103G>A	NP_001311245.1:n.*103G>A
NM_213593.4:c.*39G>A	NP_998758.1:n.*39G>A
NR_136692.1:n.704G>A
NR_136693.1:n.730G>A
NM_000792.7:c.*39G>A MANE Select	NP_000783.2:n.*39G>A
NM_001039715.3:c.*39G>A	NP_001034804.1:n.*39G>A
NM_001039716.3:c.*103G>A	NP_001034805.1:n.*103G>A
NM_001324316.2:c.*103G>A	NP_001311245.1:n.*103G>A
NM_213593.5:c.*39G>A	NP_998758.1:n.*39G>A
NR_136692.2:n.704G>A
NR_136693.2:n.730G>A