Canonical Allele Identifier: CA472414159

Gene: TH

Linked Data

• gnomAD v4: 11-2166730-G-A
• MyVariant Identifiers: chr11:g.2187960G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166730G>A , CM000673.2:g.2166730G>A	GRCh38
NC_000011.9:g.2187960G>A , CM000673.1:g.2187960G>A	GRCh37
NC_000011.8:g.2144536G>A	NCBI36
NG_008128.1:g.10076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.880C>T MANE Select	ENSP00000325951.4:p.Leu294=
ENST00000324155.8:c.*569C>T	ENSP00000325831.3:n.*569C>T
ENST00000333684.9:c.696-181C>T	ENSP00000328814.6:n.696-181C>T
ENST00000352909.7:c.880C>T	ENSP00000325951.3:p.Leu294=
ENST00000381168.7:c.*600C>T	ENSP00000370560.3:n.*600C>T
ENST00000381175.5:c.961C>T	ENSP00000370567.1:p.Leu321=
ENST00000381178.5:c.973C>T	ENSP00000370571.1:p.Leu325=
ENST00000412076.1:c.136-181C>T
ENST00000416223.5:c.174C>T
ENST00000461172.1:n.45C>T
ENST00000479437.5:n.429C>T
NM_000360.3:c.880C>T	NP_000351.2:p.Leu294=
NM_199292.2:c.973C>T	NP_954986.2:p.Leu325=
NM_199293.2:c.961C>T	NP_954987.2:p.Leu321=
XM_011520335.1:c.892C>T	XP_011518637.1:p.Leu298=
XM_011520335.2:c.892C>T	XP_011518637.1:p.Leu298=
NM_000360.4:c.880C>T MANE Select	NP_000351.2:p.Leu294=
NM_199292.3:c.973C>T	NP_954986.2:p.Leu325=
NM_199293.3:c.961C>T	NP_954987.2:p.Leu321=