Canonical Allele Identifier: CA736901568

Gene: DIO1

Linked Data

• dbSNP Id: rs114860598
• gnomAD v4: 1-53910033-G-C
• MyVariant Identifiers: chr1:g.54375706G>C (hg19) ; chr1:g.53910033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53910033G>C , CM000663.2:g.53910033G>C	GRCh38
NC_000001.10:g.54375706G>C , CM000663.1:g.54375706G>C	GRCh37
NC_000001.9:g.54148294G>C	NCBI36
NG_023306.1:g.20846G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361921.8:c.*34G>C MANE Select	ENSP00000354643.4:n.*34G>C
ENST00000322679.10:c.*98G>C	ENSP00000323198.6:n.*98G>C
ENST00000361921.7:c.*34G>C	ENSP00000354643.3:n.*34G>C
ENST00000525044.5:c.*226G>C	ENSP00000436550.1:n.*226G>C
ENST00000527060.5:c.*524G>C	ENSP00000435030.1:n.*524G>C
ENST00000528946.5:c.*162G>C	ENSP00000433891.1:n.*162G>C
ENST00000530084.5:c.*426G>C	ENSP00000431999.1:n.*426G>C
ENST00000610607.4:c.*443G>C	ENSP00000483367.1:n.*443G>C
ENST00000613679.4:c.*34G>C	ENSP00000479755.1:n.*34G>C
ENST00000617230.2:c.*98G>C	ENSP00000481665.1:n.*98G>C
NM_000792.5:c.*34G>C	NP_000783.2:n.*34G>C
NM_001039715.1:c.*34G>C	NP_001034804.1:n.*34G>C
NM_001039716.1:c.*98G>C	NP_001034805.1:n.*98G>C
NM_213593.3:c.*34G>C	NP_998758.1:n.*34G>C
NM_000792.6:c.*34G>C	NP_000783.2:n.*34G>C
NM_001039715.2:c.*34G>C	NP_001034804.1:n.*34G>C
NM_001039716.2:c.*98G>C	NP_001034805.1:n.*98G>C
NM_001324316.1:c.*98G>C	NP_001311245.1:n.*98G>C
NM_213593.4:c.*34G>C	NP_998758.1:n.*34G>C
NR_136692.1:n.699G>C
NR_136693.1:n.725G>C
NM_000792.7:c.*34G>C MANE Select	NP_000783.2:n.*34G>C
NM_001039715.3:c.*34G>C	NP_001034804.1:n.*34G>C
NM_001039716.3:c.*98G>C	NP_001034805.1:n.*98G>C
NM_001324316.2:c.*98G>C	NP_001311245.1:n.*98G>C
NM_213593.5:c.*34G>C	NP_998758.1:n.*34G>C
NR_136692.2:n.699G>C
NR_136693.2:n.725G>C