Canonical Allele Identifier: CA472414233

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187988G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166758G>C , CM000673.2:g.2166758G>C	GRCh38
NC_000011.9:g.2187988G>C , CM000673.1:g.2187988G>C	GRCh37
NC_000011.8:g.2144564G>C	NCBI36
NG_008128.1:g.10048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.852C>G MANE Select	ENSP00000325951.4:p.Gly284=
ENST00000324155.8:c.*541C>G	ENSP00000325831.3:n.*541C>G
ENST00000333684.9:c.696-209C>G	ENSP00000328814.6:n.696-209C>G
ENST00000352909.7:c.852C>G	ENSP00000325951.3:p.Gly284=
ENST00000381168.7:c.*572C>G	ENSP00000370560.3:n.*572C>G
ENST00000381175.5:c.933C>G	ENSP00000370567.1:p.Gly311=
ENST00000381178.5:c.945C>G	ENSP00000370571.1:p.Gly315=
ENST00000412076.1:c.136-209C>G
ENST00000416223.5:c.146C>G
ENST00000461172.1:n.17C>G
ENST00000479437.5:n.401C>G
NM_000360.3:c.852C>G	NP_000351.2:p.Gly284=
NM_199292.2:c.945C>G	NP_954986.2:p.Gly315=
NM_199293.2:c.933C>G	NP_954987.2:p.Gly311=
XM_011520335.1:c.864C>G	XP_011518637.1:p.Gly288=
XM_011520335.2:c.864C>G	XP_011518637.1:p.Gly288=
NM_000360.4:c.852C>G MANE Select	NP_000351.2:p.Gly284=
NM_199292.3:c.945C>G	NP_954986.2:p.Gly315=
NM_199293.3:c.933C>G	NP_954987.2:p.Gly311=