Canonical Allele Identifier: CA472032515

Gene: TH

Linked Data

• gnomAD v4: 11-2164236-G-T
• MyVariant Identifiers: chr11:g.2185466G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2164236G>T , CM000673.2:g.2164236G>T	GRCh38
NC_000011.9:g.2185466G>T , CM000673.1:g.2185466G>T	GRCh37
NC_000011.8:g.2142042G>T	NCBI36
NG_007114.1:g.1959C>A
NG_008128.1:g.12570C>A
NG_050578.1:g.1974C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1491C>A MANE Select	ENSP00000325951.4:p.Gly497=
ENST00000333684.9:c.1209C>A	ENSP00000328814.6:p.Gly403=
ENST00000352909.7:c.1491C>A	ENSP00000325951.3:p.Gly497=
ENST00000381175.5:c.1572C>A	ENSP00000370567.1:p.Gly524=
ENST00000381178.5:c.1584C>A	ENSP00000370571.1:p.Gly528=
NM_000360.3:c.1491C>A	NP_000351.2:p.Gly497=
NM_199292.2:c.1584C>A	NP_954986.2:p.Gly528=
NM_199293.2:c.1572C>A	NP_954987.2:p.Gly524=
XM_011520335.1:c.1503C>A	XP_011518637.1:p.Gly501=
XM_011520335.2:c.1503C>A	XP_011518637.1:p.Gly501=
NM_000360.4:c.1491C>A MANE Select	NP_000351.2:p.Gly497=
NM_199292.3:c.1584C>A	NP_954986.2:p.Gly528=
NM_199293.3:c.1572C>A	NP_954987.2:p.Gly524=