Canonical Allele Identifier: CA340420130

Gene: DIO1

Linked Data

• MyVariant Identifiers: chr1:g.54375605G>A (hg19) ; chr1:g.53909932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53909932G>A , CM000663.2:g.53909932G>A	GRCh38
NC_000001.10:g.54375605G>A , CM000663.1:g.54375605G>A	GRCh37
NC_000001.9:g.54148193G>A	NCBI36
NG_023306.1:g.20745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361921.8:c.683G>A MANE Select	ENSP00000354643.4:p.Gly228Asp
ENST00000322679.10:c.483G>A	ENSP00000323198.6:p.Gly161=
ENST00000361921.7:c.683G>A	ENSP00000354643.3:p.Gly228Asp
ENST00000388876.3:c.539G>A	ENSP00000373528.3:p.Gly180Asp
ENST00000524406.5:c.296G>A	ENSP00000434152.1:p.Gly99Asp
ENST00000525044.5:c.*125G>A	ENSP00000436550.1:n.*125G>A
ENST00000525202.5:c.491G>A	ENSP00000435725.1:p.Gly164Asp
ENST00000527060.5:c.*423G>A	ENSP00000435030.1:n.*423G>A
ENST00000528946.5:c.*61G>A	ENSP00000433891.1:n.*61G>A
ENST00000529329.1:c.456G>A	ENSP00000432700.1:n.456G>A
ENST00000530084.5:c.*325G>A	ENSP00000431999.1:n.*325G>A
ENST00000532493.5:c.339G>A	ENSP00000434758.1:p.Gly113=
ENST00000610607.4:c.*342G>A	ENSP00000483367.1:n.*342G>A
ENST00000613679.4:c.680G>A	ENSP00000479755.1:p.Gly227Asp
ENST00000617230.2:c.480G>A	ENSP00000481665.1:p.Gly160=
NM_000792.5:c.683G>A	NP_000783.2:p.Gly228Asp
NM_001039715.1:c.539G>A	NP_001034804.1:p.Gly180Asp
NM_001039716.1:c.483G>A	NP_001034805.1:p.Gly161=
NM_213593.3:c.491G>A	NP_998758.1:p.Gly164Asp
NM_000792.6:c.683G>A	NP_000783.2:p.Gly228Asp
NM_001039715.2:c.539G>A	NP_001034804.1:p.Gly180Asp
NM_001039716.2:c.483G>A	NP_001034805.1:p.Gly161=
NM_001324316.1:c.339G>A	NP_001311245.1:p.Gly113=
NM_213593.4:c.491G>A	NP_998758.1:p.Gly164Asp
NR_136692.1:n.598G>A
NR_136693.1:n.624G>A
NM_000792.7:c.683G>A MANE Select	NP_000783.2:p.Gly228Asp
NM_001039715.3:c.539G>A	NP_001034804.1:p.Gly180Asp
NM_001039716.3:c.483G>A	NP_001034805.1:p.Gly161=
NM_001324316.2:c.339G>A	NP_001311245.1:p.Gly113=
NM_213593.5:c.491G>A	NP_998758.1:p.Gly164Asp
NR_136692.2:n.598G>A
NR_136693.2:n.624G>A