Canonical Allele Identifier: CA278131

Gene: TH

Linked Data

• ClinVar Variation Id: 12328
• ClinVar RCV Id: RCV000013121
• dbSNP Id: rs28934580
• gnomAD v4: 11-2166693-C-T
• MyVariant Identifiers: chr11:g.2187923C>T (hg19) ; chr11:g.2166693C>T (hg38)
• PubMed: PMID:11246459

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166693C>T , CM000673.2:g.2166693C>T	GRCh38
NC_000011.9:g.2187923C>T , CM000673.1:g.2187923C>T	GRCh37
NC_000011.8:g.2144499C>T	NCBI36
NG_008128.1:g.10113G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.917G>A MANE Select	ENSP00000325951.4:p.Arg306His
ENST00000324155.8:c.*606G>A	ENSP00000325831.3:n.*606G>A
ENST00000333684.9:c.696-144G>A	ENSP00000328814.6:n.696-144G>A
ENST00000352909.7:c.917G>A	ENSP00000325951.3:p.Arg306His
ENST00000381168.7:c.*637G>A	ENSP00000370560.3:n.*637G>A
ENST00000381175.5:c.998G>A	ENSP00000370567.1:p.Arg333His
ENST00000381178.5:c.1010G>A	ENSP00000370571.1:p.Arg337His
ENST00000412076.1:c.136-144G>A
ENST00000416223.5:c.211G>A
ENST00000461172.1:n.82G>A
ENST00000479437.5:n.466G>A
NM_000360.3:c.917G>A	NP_000351.2:p.Arg306His
NM_199292.2:c.1010G>A	NP_954986.2:p.Arg337His
NM_199293.2:c.998G>A	NP_954987.2:p.Arg333His
XM_011520335.1:c.929G>A	XP_011518637.1:p.Arg310His
XM_011520335.2:c.929G>A	XP_011518637.1:p.Arg310His
NM_000360.4:c.917G>A MANE Select	NP_000351.2:p.Arg306His
NM_199292.3:c.1010G>A	NP_954986.2:p.Arg337His
NM_199293.3:c.998G>A	NP_954987.2:p.Arg333His