Canonical Allele Identifier: CA5818500

Gene: TH

Linked Data

• dbSNP Id: rs749133549
• ExAC: 11:2188213 C / T
• gnomAD v2: 11-2188213-C-T
• gnomAD v4: 11-2166983-C-T
• MyVariant Identifiers: chr11:g.2188213C>T (hg19) ; chr11:g.2166983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166983C>T , CM000673.2:g.2166983C>T	GRCh38
NC_000011.9:g.2188213C>T , CM000673.1:g.2188213C>T	GRCh37
NC_000011.8:g.2144789C>T	NCBI36
NG_008128.1:g.9823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.745G>A MANE Select	ENSP00000325951.4:p.Gly249Arg
ENST00000324155.8:c.*434G>A	ENSP00000325831.3:n.*434G>A
ENST00000333684.9:c.696-434G>A	ENSP00000328814.6:n.696-434G>A
ENST00000352909.7:c.745G>A	ENSP00000325951.3:p.Gly249Arg
ENST00000381168.7:c.*465G>A	ENSP00000370560.3:n.*465G>A
ENST00000381175.5:c.826G>A	ENSP00000370567.1:p.Gly276Arg
ENST00000381178.5:c.838G>A	ENSP00000370571.1:p.Gly280Arg
ENST00000412076.1:c.136-434G>A
ENST00000416223.5:c.136-215G>A
ENST00000469226.1:n.874G>A
ENST00000479437.5:n.294G>A
NM_000360.3:c.745G>A	NP_000351.2:p.Gly249Arg
NM_199292.2:c.838G>A	NP_954986.2:p.Gly280Arg
NM_199293.2:c.826G>A	NP_954987.2:p.Gly276Arg
XM_011520335.1:c.757G>A	XP_011518637.1:p.Gly253Arg
XM_011520335.2:c.757G>A	XP_011518637.1:p.Gly253Arg
NM_000360.4:c.745G>A MANE Select	NP_000351.2:p.Gly249Arg
NM_199292.3:c.838G>A	NP_954986.2:p.Gly280Arg
NM_199293.3:c.826G>A	NP_954987.2:p.Gly276Arg