Canonical Allele Identifier: CA472414087

Gene: TH

Linked Data

• gnomAD v4: 11-2166692-G-C
• MyVariant Identifiers: chr11:g.2187922G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166692G>C , CM000673.2:g.2166692G>C	GRCh38
NC_000011.9:g.2187922G>C , CM000673.1:g.2187922G>C	GRCh37
NC_000011.8:g.2144498G>C	NCBI36
NG_008128.1:g.10114C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.918C>G MANE Select	ENSP00000325951.4:p.Arg306=
ENST00000324155.8:c.*607C>G	ENSP00000325831.3:n.*607C>G
ENST00000333684.9:c.696-143C>G	ENSP00000328814.6:n.696-143C>G
ENST00000352909.7:c.918C>G	ENSP00000325951.3:p.Arg306=
ENST00000381168.7:c.*638C>G	ENSP00000370560.3:n.*638C>G
ENST00000381175.5:c.999C>G	ENSP00000370567.1:p.Arg333=
ENST00000381178.5:c.1011C>G	ENSP00000370571.1:p.Arg337=
ENST00000412076.1:c.136-143C>G
ENST00000416223.5:c.212C>G
ENST00000461172.1:n.83C>G
ENST00000479437.5:n.467C>G
NM_000360.3:c.918C>G	NP_000351.2:p.Arg306=
NM_199292.2:c.1011C>G	NP_954986.2:p.Arg337=
NM_199293.2:c.999C>G	NP_954987.2:p.Arg333=
XM_011520335.1:c.930C>G	XP_011518637.1:p.Arg310=
XM_011520335.2:c.930C>G	XP_011518637.1:p.Arg310=
NM_000360.4:c.918C>G MANE Select	NP_000351.2:p.Arg306=
NM_199292.3:c.1011C>G	NP_954986.2:p.Arg337=
NM_199293.3:c.999C>G	NP_954987.2:p.Arg333=