Canonical Allele Identifier: CA379112158

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169670G>C , CM000673.2:g.2169670G>C	GRCh38
NC_000011.9:g.2190900G>C , CM000673.1:g.2190900G>C	GRCh37
NC_000011.8:g.2147476G>C	NCBI36
NG_008128.1:g.7136C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.292C>G MANE Select	NP_000351.2:p.Arg98Gly
ENST00000352909.8:c.292C>G MANE Select	ENSP00000325951.4:p.Arg98Gly
NM_000360.3:c.292C>G	NP_000351.2:p.Arg98Gly
NM_199292.2:c.385C>G	NP_954986.2:p.Arg129Gly
NM_199292.3:c.385C>G	NP_954986.2:p.Arg129Gly
NM_199293.2:c.373C>G	NP_954987.2:p.Arg125Gly
NM_199293.3:c.373C>G	NP_954987.2:p.Arg125Gly
ENST00000324155.8:c.116C>G	ENSP00000325831.3:p.Pro39Arg
ENST00000333684.9:c.292C>G	ENSP00000328814.6:p.Arg98Gly
ENST00000352909.7:c.292C>G	ENSP00000325951.3:p.Arg98Gly
ENST00000381168.7:c.128C>G	ENSP00000370560.3:p.Pro43Arg
ENST00000381175.5:c.373C>G	ENSP00000370567.1:p.Arg125Gly
ENST00000381178.5:c.385C>G	ENSP00000370571.1:p.Arg129Gly
XM_011520335.1:c.304C>G	XP_011518637.1:p.Arg102Gly
XM_011520335.2:c.304C>G	XP_011518637.1:p.Arg102Gly