Canonical Allele Identifier: CA379126243

Gene: TH

Linked Data

• gnomAD v4: 11-2166704-G-C
• MyVariant Identifiers: chr11:g.2187934G>C (hg19) ; chr11:g.2166704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166704G>C , CM000673.2:g.2166704G>C	GRCh38
NC_000011.9:g.2187934G>C , CM000673.1:g.2187934G>C	GRCh37
NC_000011.8:g.2144510G>C	NCBI36
NG_008128.1:g.10102C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.906C>G MANE Select	ENSP00000325951.4:p.Ser302Arg
ENST00000324155.8:c.*595C>G	ENSP00000325831.3:n.*595C>G
ENST00000333684.9:c.696-155C>G	ENSP00000328814.6:n.696-155C>G
ENST00000352909.7:c.906C>G	ENSP00000325951.3:p.Ser302Arg
ENST00000381168.7:c.*626C>G	ENSP00000370560.3:n.*626C>G
ENST00000381175.5:c.987C>G	ENSP00000370567.1:p.Ser329Arg
ENST00000381178.5:c.999C>G	ENSP00000370571.1:p.Ser333Arg
ENST00000412076.1:c.136-155C>G
ENST00000416223.5:c.200C>G
ENST00000461172.1:n.71C>G
ENST00000479437.5:n.455C>G
NM_000360.3:c.906C>G	NP_000351.2:p.Ser302Arg
NM_199292.2:c.999C>G	NP_954986.2:p.Ser333Arg
NM_199293.2:c.987C>G	NP_954987.2:p.Ser329Arg
XM_011520335.1:c.918C>G	XP_011518637.1:p.Ser306Arg
XM_011520335.2:c.918C>G	XP_011518637.1:p.Ser306Arg
NM_000360.4:c.906C>G MANE Select	NP_000351.2:p.Ser302Arg
NM_199292.3:c.999C>G	NP_954986.2:p.Ser333Arg
NM_199293.3:c.987C>G	NP_954987.2:p.Ser329Arg