Canonical Allele Identifier: CA2645742692

Gene: DIO1

Linked Data

• gnomAD v4: 1-53909806-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53909806C>A , CM000663.2:g.53909806C>A	GRCh38
NC_000001.10:g.54375479C>A , CM000663.1:g.54375479C>A	GRCh37
NC_000001.9:g.54148067C>A	NCBI36
NG_023306.1:g.20619C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361921.8:c.682-125C>A MANE Select	ENSP00000354643.4:n.682-125C>A
ENST00000322679.10:c.482-125C>A	ENSP00000323198.6:n.482-125C>A
ENST00000361921.7:c.682-125C>A	ENSP00000354643.3:n.682-125C>A
ENST00000388876.3:c.538-125C>A	ENSP00000373528.3:n.538-125C>A
ENST00000524406.5:c.295-125C>A	ENSP00000434152.1:n.295-125C>A
ENST00000525044.5:c.*124-125C>A	ENSP00000436550.1:n.*124-125C>A
ENST00000525202.5:c.490-125C>A	ENSP00000435725.1:n.490-125C>A
ENST00000527060.5:c.*422-125C>A	ENSP00000435030.1:n.*422-125C>A
ENST00000528946.5:c.*60-125C>A	ENSP00000433891.1:n.*60-125C>A
ENST00000529329.1:c.455-125C>A	ENSP00000432700.1:n.455-125C>A
ENST00000530084.5:c.*324-125C>A	ENSP00000431999.1:n.*324-125C>A
ENST00000532493.5:c.338-125C>A	ENSP00000434758.1:n.338-125C>A
ENST00000610607.4:c.*341-125C>A	ENSP00000483367.1:n.*341-125C>A
ENST00000613679.4:c.679-125C>A	ENSP00000479755.1:n.679-125C>A
ENST00000617230.2:c.479-125C>A	ENSP00000481665.1:n.479-125C>A
NM_000792.5:c.682-125C>A	NP_000783.2:n.682-125C>A
NM_001039715.1:c.538-125C>A	NP_001034804.1:n.538-125C>A
NM_001039716.1:c.482-125C>A	NP_001034805.1:n.482-125C>A
NM_213593.3:c.490-125C>A	NP_998758.1:n.490-125C>A
NM_000792.6:c.682-125C>A	NP_000783.2:n.682-125C>A
NM_001039715.2:c.538-125C>A	NP_001034804.1:n.538-125C>A
NM_001039716.2:c.482-125C>A	NP_001034805.1:n.482-125C>A
NM_001324316.1:c.338-125C>A	NP_001311245.1:n.338-125C>A
NM_213593.4:c.490-125C>A	NP_998758.1:n.490-125C>A
NR_136692.1:n.597-125C>A
NR_136693.1:n.623-125C>A
NM_000792.7:c.682-125C>A MANE Select	NP_000783.2:n.682-125C>A
NM_001039715.3:c.538-125C>A	NP_001034804.1:n.538-125C>A
NM_001039716.3:c.482-125C>A	NP_001034805.1:n.482-125C>A
NM_001324316.2:c.338-125C>A	NP_001311245.1:n.338-125C>A
NM_213593.5:c.490-125C>A	NP_998758.1:n.490-125C>A
NR_136692.2:n.597-125C>A
NR_136693.2:n.623-125C>A