Canonical Allele Identifier: CA472414363

Gene: TH

Linked Data

• ClinVar Variation Id: 1666004
• ClinVar RCV Id: RCV002194006
• dbSNP Id: rs761504134
• gnomAD v3: 11-2166990-G-A
• gnomAD v4: 11-2166990-G-A
• MyVariant Identifiers: chr11:g.2188220G>A (hg19) ; chr11:g.2166990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166990G>A , CM000673.2:g.2166990G>A	GRCh38
NC_000011.9:g.2188220G>A , CM000673.1:g.2188220G>A	GRCh37
NC_000011.8:g.2144796G>A	NCBI36
NG_008128.1:g.9816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.738C>T MANE Select	ENSP00000325951.4:p.His246=
ENST00000324155.8:c.*427C>T	ENSP00000325831.3:n.*427C>T
ENST00000333684.9:c.696-441C>T	ENSP00000328814.6:n.696-441C>T
ENST00000352909.7:c.738C>T	ENSP00000325951.3:p.His246=
ENST00000381168.7:c.*458C>T	ENSP00000370560.3:n.*458C>T
ENST00000381175.5:c.819C>T	ENSP00000370567.1:p.His273=
ENST00000381178.5:c.831C>T	ENSP00000370571.1:p.His277=
ENST00000412076.1:c.136-441C>T
ENST00000416223.5:c.136-222C>T
ENST00000469226.1:n.867C>T
ENST00000479437.5:n.287C>T
NM_000360.3:c.738C>T	NP_000351.2:p.His246=
NM_199292.2:c.831C>T	NP_954986.2:p.His277=
NM_199293.2:c.819C>T	NP_954987.2:p.His273=
XM_011520335.1:c.750C>T	XP_011518637.1:p.His250=
XM_011520335.2:c.750C>T	XP_011518637.1:p.His250=
NM_000360.4:c.738C>T MANE Select	NP_000351.2:p.His246=
NM_199292.3:c.831C>T	NP_954986.2:p.His277=
NM_199293.3:c.819C>T	NP_954987.2:p.His273=