Canonical Allele Identifier: CA2574376197

Gene: DIO1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53910034G>T , CM000663.2:g.53910034G>T	GRCh38
NC_000001.10:g.54375707G>T , CM000663.1:g.54375707G>T	GRCh37
NC_000001.9:g.54148295G>T	NCBI36
NG_023306.1:g.20847G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361921.8:c.*35G>T MANE Select	ENSP00000354643.4:n.*35G>T
ENST00000322679.10:c.*99G>T	ENSP00000323198.6:n.*99G>T
ENST00000361921.7:c.*35G>T	ENSP00000354643.3:n.*35G>T
ENST00000525044.5:c.*227G>T	ENSP00000436550.1:n.*227G>T
ENST00000527060.5:c.*525G>T	ENSP00000435030.1:n.*525G>T
ENST00000528946.5:c.*163G>T	ENSP00000433891.1:n.*163G>T
ENST00000530084.5:c.*427G>T	ENSP00000431999.1:n.*427G>T
ENST00000610607.4:c.*444G>T	ENSP00000483367.1:n.*444G>T
ENST00000613679.4:c.*35G>T	ENSP00000479755.1:n.*35G>T
ENST00000617230.2:c.*99G>T	ENSP00000481665.1:n.*99G>T
NM_000792.5:c.*35G>T	NP_000783.2:n.*35G>T
NM_001039715.1:c.*35G>T	NP_001034804.1:n.*35G>T
NM_001039716.1:c.*99G>T	NP_001034805.1:n.*99G>T
NM_213593.3:c.*35G>T	NP_998758.1:n.*35G>T
NM_000792.6:c.*35G>T	NP_000783.2:n.*35G>T
NM_001039715.2:c.*35G>T	NP_001034804.1:n.*35G>T
NM_001039716.2:c.*99G>T	NP_001034805.1:n.*99G>T
NM_001324316.1:c.*99G>T	NP_001311245.1:n.*99G>T
NM_213593.4:c.*35G>T	NP_998758.1:n.*35G>T
NR_136692.1:n.700G>T
NR_136693.1:n.726G>T
NM_000792.7:c.*35G>T MANE Select	NP_000783.2:n.*35G>T
NM_001039715.3:c.*35G>T	NP_001034804.1:n.*35G>T
NM_001039716.3:c.*99G>T	NP_001034805.1:n.*99G>T
NM_001324316.2:c.*99G>T	NP_001311245.1:n.*99G>T
NM_213593.5:c.*35G>T	NP_998758.1:n.*35G>T
NR_136692.2:n.700G>T
NR_136693.2:n.726G>T