Canonical Allele Identifier: CA2645742698

Gene: DIO1

Linked Data

• gnomAD v4: 1-53909818-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53909818C>T , CM000663.2:g.53909818C>T	GRCh38
NC_000001.10:g.54375491C>T , CM000663.1:g.54375491C>T	GRCh37
NC_000001.9:g.54148079C>T	NCBI36
NG_023306.1:g.20631C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361921.8:c.682-113C>T MANE Select	ENSP00000354643.4:n.682-113C>T
ENST00000322679.10:c.482-113C>T	ENSP00000323198.6:n.482-113C>T
ENST00000361921.7:c.682-113C>T	ENSP00000354643.3:n.682-113C>T
ENST00000388876.3:c.538-113C>T	ENSP00000373528.3:n.538-113C>T
ENST00000524406.5:c.295-113C>T	ENSP00000434152.1:n.295-113C>T
ENST00000525044.5:c.*124-113C>T	ENSP00000436550.1:n.*124-113C>T
ENST00000525202.5:c.490-113C>T	ENSP00000435725.1:n.490-113C>T
ENST00000527060.5:c.*422-113C>T	ENSP00000435030.1:n.*422-113C>T
ENST00000528946.5:c.*60-113C>T	ENSP00000433891.1:n.*60-113C>T
ENST00000529329.1:c.455-113C>T	ENSP00000432700.1:n.455-113C>T
ENST00000530084.5:c.*324-113C>T	ENSP00000431999.1:n.*324-113C>T
ENST00000532493.5:c.338-113C>T	ENSP00000434758.1:n.338-113C>T
ENST00000610607.4:c.*341-113C>T	ENSP00000483367.1:n.*341-113C>T
ENST00000613679.4:c.679-113C>T	ENSP00000479755.1:n.679-113C>T
ENST00000617230.2:c.479-113C>T	ENSP00000481665.1:n.479-113C>T
NM_000792.5:c.682-113C>T	NP_000783.2:n.682-113C>T
NM_001039715.1:c.538-113C>T	NP_001034804.1:n.538-113C>T
NM_001039716.1:c.482-113C>T	NP_001034805.1:n.482-113C>T
NM_213593.3:c.490-113C>T	NP_998758.1:n.490-113C>T
NM_000792.6:c.682-113C>T	NP_000783.2:n.682-113C>T
NM_001039715.2:c.538-113C>T	NP_001034804.1:n.538-113C>T
NM_001039716.2:c.482-113C>T	NP_001034805.1:n.482-113C>T
NM_001324316.1:c.338-113C>T	NP_001311245.1:n.338-113C>T
NM_213593.4:c.490-113C>T	NP_998758.1:n.490-113C>T
NR_136692.1:n.597-113C>T
NR_136693.1:n.623-113C>T
NM_000792.7:c.682-113C>T MANE Select	NP_000783.2:n.682-113C>T
NM_001039715.3:c.538-113C>T	NP_001034804.1:n.538-113C>T
NM_001039716.3:c.482-113C>T	NP_001034805.1:n.482-113C>T
NM_001324316.2:c.338-113C>T	NP_001311245.1:n.338-113C>T
NM_213593.5:c.490-113C>T	NP_998758.1:n.490-113C>T
NR_136692.2:n.597-113C>T
NR_136693.2:n.623-113C>T