Canonical Allele Identifier: CA1140356815

Gene: DIO1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53911057A= , CM000663.2:g.53911057A=	GRCh38
NC_000001.10:g.54376730A= , CM000663.1:g.54376730A=	GRCh37
NC_000001.9:g.54149318A=	NCBI36
NG_023306.1:g.21870A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361921.8:c.*1058A= MANE Select	ENSP00000354643.4:n.*1058A=
ENST00000322679.10:c.*1122A=	ENSP00000323198.6:n.*1122A=
ENST00000361921.7:c.*1058A=	ENSP00000354643.3:n.*1058A=
ENST00000613679.4:c.*1058A=	ENSP00000479755.1:n.*1058A=
ENST00000617230.2:c.*1122A=	ENSP00000481665.1:n.*1122A=
NM_000792.5:c.*1058A=	NP_000783.2:n.*1058A=
NM_001039715.1:c.*1058A=	NP_001034804.1:n.*1058A=
NM_001039716.1:c.*1122A=	NP_001034805.1:n.*1122A=
NM_213593.3:c.*1058A=	NP_998758.1:n.*1058A=
NM_000792.6:c.*1058A=	NP_000783.2:n.*1058A=
NM_001039715.2:c.*1058A=	NP_001034804.1:n.*1058A=
NM_001039716.2:c.*1122A=	NP_001034805.1:n.*1122A=
NM_001324316.1:c.*1122A=	NP_001311245.1:n.*1122A=
NM_213593.4:c.*1058A=	NP_998758.1:n.*1058A=
NR_136692.1:n.1723A=
NR_136693.1:n.1749A=
NM_000792.7:c.*1058A= MANE Select	NP_000783.2:n.*1058A=
NM_001039715.3:c.*1058A=	NP_001034804.1:n.*1058A=
NM_001039716.3:c.*1122A=	NP_001034805.1:n.*1122A=
NM_001324316.2:c.*1122A=	NP_001311245.1:n.*1122A=
NM_213593.5:c.*1058A=	NP_998758.1:n.*1058A=
NR_136692.2:n.1723A=
NR_136693.2:n.1749A=