Canonical Allele Identifier: CA472414013

Gene: TH

Linked Data

• gnomAD v4: 11-2166656-G-C
• MyVariant Identifiers: chr11:g.2187886G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166656G>C , CM000673.2:g.2166656G>C	GRCh38
NC_000011.9:g.2187886G>C , CM000673.1:g.2187886G>C	GRCh37
NC_000011.8:g.2144462G>C	NCBI36
NG_008128.1:g.10150C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.954C>G MANE Select	ENSP00000325951.4:p.Ser318=
ENST00000324155.8:c.*643C>G	ENSP00000325831.3:n.*643C>G
ENST00000333684.9:c.696-107C>G	ENSP00000328814.6:n.696-107C>G
ENST00000352909.7:c.954C>G	ENSP00000325951.3:p.Ser318=
ENST00000381168.7:c.*674C>G	ENSP00000370560.3:n.*674C>G
ENST00000381175.5:c.1035C>G	ENSP00000370567.1:p.Ser345=
ENST00000381178.5:c.1047C>G	ENSP00000370571.1:p.Ser349=
ENST00000412076.1:c.136-107C>G
ENST00000416223.5:c.248C>G
ENST00000461172.1:n.119C>G
ENST00000479437.5:n.503C>G
NM_000360.3:c.954C>G	NP_000351.2:p.Ser318=
NM_199292.2:c.1047C>G	NP_954986.2:p.Ser349=
NM_199293.2:c.1035C>G	NP_954987.2:p.Ser345=
XM_011520335.1:c.966C>G	XP_011518637.1:p.Ser322=
XM_011520335.2:c.966C>G	XP_011518637.1:p.Ser322=
NM_000360.4:c.954C>G MANE Select	NP_000351.2:p.Ser318=
NM_199292.3:c.1047C>G	NP_954986.2:p.Ser349=
NM_199293.3:c.1035C>G	NP_954987.2:p.Ser345=