Canonical Allele Identifier: CA472414301

Gene: TH

Linked Data

• dbSNP Id: rs1176348316
• gnomAD v2: 11-2188118-C-T
• gnomAD v4: 11-2166888-C-T
• MyVariant Identifiers: chr11:g.2188118C>T (hg19) ; chr11:g.2166888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166888C>T , CM000673.2:g.2166888C>T	GRCh38
NC_000011.9:g.2188118C>T , CM000673.1:g.2188118C>T	GRCh37
NC_000011.8:g.2144694C>T	NCBI36
NG_008128.1:g.9918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.840G>A MANE Select	ENSP00000325951.4:p.Lys280=
ENST00000324155.8:c.*529G>A	ENSP00000325831.3:n.*529G>A
ENST00000333684.9:c.696-339G>A	ENSP00000328814.6:n.696-339G>A
ENST00000352909.7:c.840G>A	ENSP00000325951.3:p.Lys280=
ENST00000381168.7:c.*560G>A	ENSP00000370560.3:n.*560G>A
ENST00000381175.5:c.921G>A	ENSP00000370567.1:p.Lys307=
ENST00000381178.5:c.933G>A	ENSP00000370571.1:p.Lys311=
ENST00000412076.1:c.136-339G>A
ENST00000416223.5:c.136-120G>A
ENST00000479437.5:n.389G>A
NM_000360.3:c.840G>A	NP_000351.2:p.Lys280=
NM_199292.2:c.933G>A	NP_954986.2:p.Lys311=
NM_199293.2:c.921G>A	NP_954987.2:p.Lys307=
XM_011520335.1:c.852G>A	XP_011518637.1:p.Lys284=
XM_011520335.2:c.852G>A	XP_011518637.1:p.Lys284=
NM_000360.4:c.840G>A MANE Select	NP_000351.2:p.Lys280=
NM_199292.3:c.933G>A	NP_954986.2:p.Lys311=
NM_199293.3:c.921G>A	NP_954987.2:p.Lys307=