Canonical Allele Identifier: CA5818450

Gene: TH

Linked Data

• ClinVar Variation Id: 448684
• ClinVar RCV Id: RCV000516963
• dbSNP Id: rs779139610
• ExAC: 11:2187939 C / T
• gnomAD v2: 11-2187939-C-T
• gnomAD v4: 11-2166709-C-T
• MyVariant Identifiers: chr11:g.2187939C>T (hg19) ; chr11:g.2166709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166709C>T , CM000673.2:g.2166709C>T	GRCh38
NC_000011.9:g.2187939C>T , CM000673.1:g.2187939C>T	GRCh37
NC_000011.8:g.2144515C>T	NCBI36
NG_008128.1:g.10097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.901G>A MANE Select	ENSP00000325951.4:p.Ala301Thr
ENST00000324155.8:c.*590G>A	ENSP00000325831.3:n.*590G>A
ENST00000333684.9:c.696-160G>A	ENSP00000328814.6:n.696-160G>A
ENST00000352909.7:c.901G>A	ENSP00000325951.3:p.Ala301Thr
ENST00000381168.7:c.*621G>A	ENSP00000370560.3:n.*621G>A
ENST00000381175.5:c.982G>A	ENSP00000370567.1:p.Ala328Thr
ENST00000381178.5:c.994G>A	ENSP00000370571.1:p.Ala332Thr
ENST00000412076.1:c.136-160G>A
ENST00000416223.5:c.195G>A
ENST00000461172.1:n.66G>A
ENST00000479437.5:n.450G>A
NM_000360.3:c.901G>A	NP_000351.2:p.Ala301Thr
NM_199292.2:c.994G>A	NP_954986.2:p.Ala332Thr
NM_199293.2:c.982G>A	NP_954987.2:p.Ala328Thr
XM_011520335.1:c.913G>A	XP_011518637.1:p.Ala305Thr
XM_011520335.2:c.913G>A	XP_011518637.1:p.Ala305Thr
NM_000360.4:c.901G>A MANE Select	NP_000351.2:p.Ala301Thr
NM_199292.3:c.994G>A	NP_954986.2:p.Ala332Thr
NM_199293.3:c.982G>A	NP_954987.2:p.Ala328Thr