Canonical Allele Identifier: CA8539227

Gene: THRA

Linked Data

• ClinVar Variation Id: 259021
• ClinVar RCV Id: RCV000241647 ; RCV000900159
• dbSNP Id: rs41283431
• ExAC: 17:38244509 C / T
• gnomAD v2: 17-38244509-C-T
• gnomAD v3: 17-40088256-C-T
• gnomAD v4: 17-40088256-C-T
• MyVariant Identifiers: chr17:g.38244509C>T (hg19) ; chr17:g.40088256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40088256C>T , CM000679.2:g.40088256C>T	GRCh38
NC_000017.10:g.38244509C>T , CM000679.1:g.38244509C>T	GRCh37
NC_000017.9:g.35498035C>T	NCBI36
NG_023345.1:g.31064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450525.7:c.738C>T MANE Select	ENSP00000395641.3:p.Asp246=
ENST00000264637.8:c.738C>T	ENSP00000264637.4:p.Asp246=
ENST00000394121.8:c.738C>T	ENSP00000377679.4:p.Asp246=
ENST00000450525.6:c.738C>T	ENSP00000395641.2:p.Asp246=
ENST00000546243.5:c.738C>T	ENSP00000443972.1:p.Asp246=
ENST00000584985.5:c.738C>T	ENSP00000463466.1:p.Asp246=
NM_001190918.1:c.738C>T	NP_001177847.1:p.Asp246=
NM_001190919.1:c.738C>T	NP_001177848.1:p.Asp246=
NM_003250.5:c.738C>T	NP_003241.2:p.Asp246=
NM_199334.3:c.738C>T	NP_955366.1:p.Asp246=
NM_001190918.2:c.738C>T	NP_001177847.1:p.Asp246=
NM_003250.6:c.738C>T	NP_003241.2:p.Asp246=
NM_199334.5:c.738C>T MANE Select	NP_955366.1:p.Asp246=
NM_001190919.2:c.738C>T	NP_001177848.1:p.Asp246=