Canonical Allele Identifier: CA379126158

Gene: TH

Linked Data

• gnomAD v4: 11-2166667-G-A
• MyVariant Identifiers: chr11:g.2187897G>A (hg19) ; chr11:g.2166667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166667G>A , CM000673.2:g.2166667G>A	GRCh38
NC_000011.9:g.2187897G>A , CM000673.1:g.2187897G>A	GRCh37
NC_000011.8:g.2144473G>A	NCBI36
NG_008128.1:g.10139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.943C>T MANE Select	ENSP00000325951.4:p.Arg315Cys
ENST00000324155.8:c.*632C>T	ENSP00000325831.3:n.*632C>T
ENST00000333684.9:c.696-118C>T	ENSP00000328814.6:n.696-118C>T
ENST00000352909.7:c.943C>T	ENSP00000325951.3:p.Arg315Cys
ENST00000381168.7:c.*663C>T	ENSP00000370560.3:n.*663C>T
ENST00000381175.5:c.1024C>T	ENSP00000370567.1:p.Arg342Cys
ENST00000381178.5:c.1036C>T	ENSP00000370571.1:p.Arg346Cys
ENST00000412076.1:c.136-118C>T
ENST00000416223.5:c.237C>T
ENST00000461172.1:n.108C>T
ENST00000479437.5:n.492C>T
NM_000360.3:c.943C>T	NP_000351.2:p.Arg315Cys
NM_199292.2:c.1036C>T	NP_954986.2:p.Arg346Cys
NM_199293.2:c.1024C>T	NP_954987.2:p.Arg342Cys
XM_011520335.1:c.955C>T	XP_011518637.1:p.Arg319Cys
XM_011520335.2:c.955C>T	XP_011518637.1:p.Arg319Cys
NM_000360.4:c.943C>T MANE Select	NP_000351.2:p.Arg315Cys
NM_199292.3:c.1036C>T	NP_954986.2:p.Arg346Cys
NM_199293.3:c.1024C>T	NP_954987.2:p.Arg342Cys