Canonical Allele Identifier: CA522924946

Gene: DIO1

Linked Data

• dbSNP Id: rs1183141168
• gnomAD v2: 1-54375499-C-T
• gnomAD v3: 1-53909826-C-T
• gnomAD v4: 1-53909826-C-T
• MyVariant Identifiers: chr1:g.54375499C>T (hg19) ; chr1:g.53909826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53909826C>T , CM000663.2:g.53909826C>T	GRCh38
NC_000001.10:g.54375499C>T , CM000663.1:g.54375499C>T	GRCh37
NC_000001.9:g.54148087C>T	NCBI36
NG_023306.1:g.20639C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361921.8:c.682-105C>T MANE Select	ENSP00000354643.4:n.682-105C>T
ENST00000322679.10:c.482-105C>T	ENSP00000323198.6:n.482-105C>T
ENST00000361921.7:c.682-105C>T	ENSP00000354643.3:n.682-105C>T
ENST00000388876.3:c.538-105C>T	ENSP00000373528.3:n.538-105C>T
ENST00000524406.5:c.295-105C>T	ENSP00000434152.1:n.295-105C>T
ENST00000525044.5:c.*124-105C>T	ENSP00000436550.1:n.*124-105C>T
ENST00000525202.5:c.490-105C>T	ENSP00000435725.1:n.490-105C>T
ENST00000527060.5:c.*422-105C>T	ENSP00000435030.1:n.*422-105C>T
ENST00000528946.5:c.*60-105C>T	ENSP00000433891.1:n.*60-105C>T
ENST00000529329.1:c.455-105C>T	ENSP00000432700.1:n.455-105C>T
ENST00000530084.5:c.*324-105C>T	ENSP00000431999.1:n.*324-105C>T
ENST00000532493.5:c.338-105C>T	ENSP00000434758.1:n.338-105C>T
ENST00000610607.4:c.*341-105C>T	ENSP00000483367.1:n.*341-105C>T
ENST00000613679.4:c.679-105C>T	ENSP00000479755.1:n.679-105C>T
ENST00000617230.2:c.479-105C>T	ENSP00000481665.1:n.479-105C>T
NM_000792.5:c.682-105C>T	NP_000783.2:n.682-105C>T
NM_001039715.1:c.538-105C>T	NP_001034804.1:n.538-105C>T
NM_001039716.1:c.482-105C>T	NP_001034805.1:n.482-105C>T
NM_213593.3:c.490-105C>T	NP_998758.1:n.490-105C>T
NM_000792.6:c.682-105C>T	NP_000783.2:n.682-105C>T
NM_001039715.2:c.538-105C>T	NP_001034804.1:n.538-105C>T
NM_001039716.2:c.482-105C>T	NP_001034805.1:n.482-105C>T
NM_001324316.1:c.338-105C>T	NP_001311245.1:n.338-105C>T
NM_213593.4:c.490-105C>T	NP_998758.1:n.490-105C>T
NR_136692.1:n.597-105C>T
NR_136693.1:n.623-105C>T
NM_000792.7:c.682-105C>T MANE Select	NP_000783.2:n.682-105C>T
NM_001039715.3:c.538-105C>T	NP_001034804.1:n.538-105C>T
NM_001039716.3:c.482-105C>T	NP_001034805.1:n.482-105C>T
NM_001324316.2:c.338-105C>T	NP_001311245.1:n.338-105C>T
NM_213593.5:c.490-105C>T	NP_998758.1:n.490-105C>T
NR_136692.2:n.597-105C>T
NR_136693.2:n.623-105C>T