Canonical Allele Identifier: CA5818509

Gene: TH

Linked Data

• ClinVar Variation Id: 263258
• ClinVar RCV Id: RCV000252592 ; RCV000287153 ; RCV000710271
• dbSNP Id: rs6357
• ExAC: 11:2188238 C / T
• gnomAD v2: 11-2188238-C-T
• gnomAD v3: 11-2167008-C-T
• gnomAD v4: 11-2167008-C-T
• MyVariant Identifiers: chr11:g.2188238C>T (hg19) ; chr11:g.2167008C>T (hg38)
• PubMed: PMID:18554280

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167008C>T , CM000673.2:g.2167008C>T	GRCh38
NC_000011.9:g.2188238C>T , CM000673.1:g.2188238C>T	GRCh37
NC_000011.8:g.2144814C>T	NCBI36
NG_008128.1:g.9798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.720G>A MANE Select	ENSP00000325951.4:p.Lys240=
ENST00000324155.8:c.*409G>A	ENSP00000325831.3:n.*409G>A
ENST00000333684.9:c.695+427G>A	ENSP00000328814.6:n.695+427G>A
ENST00000352909.7:c.720G>A	ENSP00000325951.3:p.Lys240=
ENST00000381168.7:c.*440G>A	ENSP00000370560.3:n.*440G>A
ENST00000381175.5:c.801G>A	ENSP00000370567.1:p.Lys267=
ENST00000381178.5:c.813G>A	ENSP00000370571.1:p.Lys271=
ENST00000412076.1:c.135+427G>A
ENST00000416223.5:c.136-240G>A
ENST00000469226.1:n.849G>A
ENST00000479437.5:n.269G>A
NM_000360.3:c.720G>A	NP_000351.2:p.Lys240=
NM_199292.2:c.813G>A	NP_954986.2:p.Lys271=
NM_199293.2:c.801G>A	NP_954987.2:p.Lys267=
XM_011520335.1:c.732G>A	XP_011518637.1:p.Lys244=
XM_011520335.2:c.732G>A	XP_011518637.1:p.Lys244=
NM_000360.4:c.720G>A MANE Select	NP_000351.2:p.Lys240=
NM_199292.3:c.813G>A	NP_954986.2:p.Lys271=
NM_199293.3:c.801G>A	NP_954987.2:p.Lys267=