Canonical Allele Identifier: CA1140245857

Gene: DIO1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53910028C= , CM000663.2:g.53910028C=	GRCh38
NC_000001.10:g.54375701C= , CM000663.1:g.54375701C=	GRCh37
NC_000001.9:g.54148289C=	NCBI36
NG_023306.1:g.20841C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000792.7:c.*29C= MANE Select	NP_000783.2:n.*29C=
ENST00000361921.8:c.*29C= MANE Select	ENSP00000354643.4:n.*29C=
NM_000792.5:c.*29C=	NP_000783.2:n.*29C=
NM_000792.6:c.*29C=	NP_000783.2:n.*29C=
NM_001039715.1:c.*29C=	NP_001034804.1:n.*29C=
NM_001039715.2:c.*29C=	NP_001034804.1:n.*29C=
NM_001039715.3:c.*29C=	NP_001034804.1:n.*29C=
NM_001039716.1:c.*93C=	NP_001034805.1:n.*93C=
NM_001039716.2:c.*93C=	NP_001034805.1:n.*93C=
NM_001039716.3:c.*93C=	NP_001034805.1:n.*93C=
NM_001324316.1:c.*93C=	NP_001311245.1:n.*93C=
NM_001324316.2:c.*93C=	NP_001311245.1:n.*93C=
NM_213593.3:c.*29C=	NP_998758.1:n.*29C=
NM_213593.4:c.*29C=	NP_998758.1:n.*29C=
NM_213593.5:c.*29C=	NP_998758.1:n.*29C=
NR_136692.1:n.694C=
NR_136692.2:n.694C=
NR_136693.1:n.720C=
NR_136693.2:n.720C=
ENST00000322679.10:c.*93C=	ENSP00000323198.6:n.*93C=
ENST00000361921.7:c.*29C=	ENSP00000354643.3:n.*29C=
ENST00000525044.5:c.*221C=	ENSP00000436550.1:n.*221C=
ENST00000527060.5:c.*519C=	ENSP00000435030.1:n.*519C=
ENST00000528946.5:c.*157C=	ENSP00000433891.1:n.*157C=
ENST00000530084.5:c.*421C=	ENSP00000431999.1:n.*421C=
ENST00000610607.4:c.*438C=	ENSP00000483367.1:n.*438C=
ENST00000613679.4:c.*29C=	ENSP00000479755.1:n.*29C=
ENST00000617230.2:c.*93C=	ENSP00000481665.1:n.*93C=