Canonical Allele Identifier: CA5818444

Gene: TH

Linked Data

• dbSNP Id: rs777379609
• ExAC: 11:2187869 G / C
• gnomAD v2: 11-2187869-G-C
• gnomAD v3: 11-2166639-G-C
• gnomAD v4: 11-2166639-G-C
• MyVariant Identifiers: chr11:g.2187869G>C (hg19) ; chr11:g.2166639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166639G>C , CM000673.2:g.2166639G>C	GRCh38
NC_000011.9:g.2187869G>C , CM000673.1:g.2187869G>C	GRCh37
NC_000011.8:g.2144445G>C	NCBI36
NG_008128.1:g.10167C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.971C>G MANE Select	ENSP00000325951.4:p.Pro324Arg
ENST00000324155.8:c.*660C>G	ENSP00000325831.3:n.*660C>G
ENST00000333684.9:c.696-90C>G	ENSP00000328814.6:n.696-90C>G
ENST00000352909.7:c.971C>G	ENSP00000325951.3:p.Pro324Arg
ENST00000381168.7:c.*691C>G	ENSP00000370560.3:n.*691C>G
ENST00000381175.5:c.1052C>G	ENSP00000370567.1:p.Pro351Arg
ENST00000381178.5:c.1064C>G	ENSP00000370571.1:p.Pro355Arg
ENST00000412076.1:c.136-90C>G
ENST00000416223.5:c.265C>G
ENST00000461172.1:n.136C>G
ENST00000479437.5:n.520C>G
NM_000360.3:c.971C>G	NP_000351.2:p.Pro324Arg
NM_199292.2:c.1064C>G	NP_954986.2:p.Pro355Arg
NM_199293.2:c.1052C>G	NP_954987.2:p.Pro351Arg
XM_011520335.1:c.983C>G	XP_011518637.1:p.Pro328Arg
XM_011520335.2:c.983C>G	XP_011518637.1:p.Pro328Arg
NM_000360.4:c.971C>G MANE Select	NP_000351.2:p.Pro324Arg
NM_199292.3:c.1064C>G	NP_954986.2:p.Pro355Arg
NM_199293.3:c.1052C>G	NP_954987.2:p.Pro351Arg