Canonical Allele Identifier: CA5818661

Gene: TH

Linked Data

• ClinVar Variation Id: 526208
• ClinVar RCV Id: RCV000764964 ; RCV003343960 ; RCV001766340
• dbSNP Id: rs147569564
• ExAC: 11:2189756 A / G
• gnomAD v2: 11-2189756-A-G
• gnomAD v3: 11-2168526-A-G
• gnomAD v4: 11-2168526-A-G
• MyVariant Identifiers: chr11:g.2189756A>G (hg19) ; chr11:g.2168526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2168526A>G , CM000673.2:g.2168526A>G	GRCh38
NC_000011.9:g.2189756A>G , CM000673.1:g.2189756A>G	GRCh37
NC_000011.8:g.2146332A>G	NCBI36
NG_008128.1:g.8280T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.452T>C MANE Select	ENSP00000325951.4:p.Val151Ala
ENST00000324155.8:c.*141T>C	ENSP00000325831.3:n.*141T>C
ENST00000333684.9:c.452T>C	ENSP00000328814.6:p.Val151Ala
ENST00000352909.7:c.452T>C	ENSP00000325951.3:p.Val151Ala
ENST00000381168.7:c.*141T>C	ENSP00000370560.3:n.*141T>C
ENST00000381175.5:c.533T>C	ENSP00000370567.1:p.Val178Ala
ENST00000381178.5:c.545T>C	ENSP00000370571.1:p.Val182Ala
ENST00000469226.1:n.201T>C
NM_000360.3:c.452T>C	NP_000351.2:p.Val151Ala
NM_199292.2:c.545T>C	NP_954986.2:p.Val182Ala
NM_199293.2:c.533T>C	NP_954987.2:p.Val178Ala
XM_011520335.1:c.464T>C	XP_011518637.1:p.Val155Ala
XM_011520335.2:c.464T>C	XP_011518637.1:p.Val155Ala
NM_000360.4:c.452T>C MANE Select	NP_000351.2:p.Val151Ala
NM_199292.3:c.545T>C	NP_954986.2:p.Val182Ala
NM_199293.3:c.533T>C	NP_954987.2:p.Val178Ala