Canonical Allele Identifier: CA379127025

Gene: TH

Linked Data

• ClinVar Variation Id: 1516799
• ClinVar RCV Id: RCV002026866
• dbSNP Id: rs1196330512
• gnomAD v4: 11-2167001-A-G
• MyVariant Identifiers: chr11:g.2188231A>G (hg19) ; chr11:g.2167001A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167001A>G , CM000673.2:g.2167001A>G	GRCh38
NC_000011.9:g.2188231A>G , CM000673.1:g.2188231A>G	GRCh37
NC_000011.8:g.2144807A>G	NCBI36
NG_008128.1:g.9805T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.727T>C MANE Select	ENSP00000325951.4:p.Tyr243His
ENST00000324155.8:c.*416T>C	ENSP00000325831.3:n.*416T>C
ENST00000333684.9:c.695+434T>C	ENSP00000328814.6:n.695+434T>C
ENST00000352909.7:c.727T>C	ENSP00000325951.3:p.Tyr243His
ENST00000381168.7:c.*447T>C	ENSP00000370560.3:n.*447T>C
ENST00000381175.5:c.808T>C	ENSP00000370567.1:p.Tyr270His
ENST00000381178.5:c.820T>C	ENSP00000370571.1:p.Tyr274His
ENST00000412076.1:c.135+434T>C
ENST00000416223.5:c.136-233T>C
ENST00000469226.1:n.856T>C
ENST00000479437.5:n.276T>C
NM_000360.3:c.727T>C	NP_000351.2:p.Tyr243His
NM_199292.2:c.820T>C	NP_954986.2:p.Tyr274His
NM_199293.2:c.808T>C	NP_954987.2:p.Tyr270His
XM_011520335.1:c.739T>C	XP_011518637.1:p.Tyr247His
XM_011520335.2:c.739T>C	XP_011518637.1:p.Tyr247His
NM_000360.4:c.727T>C MANE Select	NP_000351.2:p.Tyr243His
NM_199292.3:c.820T>C	NP_954986.2:p.Tyr274His
NM_199293.3:c.808T>C	NP_954987.2:p.Tyr270His