Canonical Allele Identifier: CA472413921

Gene: TH

Linked Data

• gnomAD v4: 11-2166528-C-A
• MyVariant Identifiers: chr11:g.2187758C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166528C>A , CM000673.2:g.2166528C>A	GRCh38
NC_000011.9:g.2187758C>A , CM000673.1:g.2187758C>A	GRCh37
NC_000011.8:g.2144334C>A	NCBI36
NG_008128.1:g.10278G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.999G>T MANE Select	ENSP00000325951.4:p.Leu333=
ENST00000324155.8:c.*688G>T	ENSP00000325831.3:n.*688G>T
ENST00000333684.9:c.717G>T	ENSP00000328814.6:p.Leu239=
ENST00000352909.7:c.999G>T	ENSP00000325951.3:p.Leu333=
ENST00000381168.7:c.*719G>T	ENSP00000370560.3:n.*719G>T
ENST00000381175.5:c.1080G>T	ENSP00000370567.1:p.Leu360=
ENST00000381178.5:c.1092G>T	ENSP00000370571.1:p.Leu364=
ENST00000412076.1:c.157G>T
ENST00000416223.5:c.293G>T
ENST00000461172.1:n.164G>T
ENST00000479437.5:n.548G>T
NM_000360.3:c.999G>T	NP_000351.2:p.Leu333=
NM_199292.2:c.1092G>T	NP_954986.2:p.Leu364=
NM_199293.2:c.1080G>T	NP_954987.2:p.Leu360=
XM_011520335.1:c.1011G>T	XP_011518637.1:p.Leu337=
XM_011520335.2:c.1011G>T	XP_011518637.1:p.Leu337=
NM_000360.4:c.999G>T MANE Select	NP_000351.2:p.Leu333=
NM_199292.3:c.1092G>T	NP_954986.2:p.Leu364=
NM_199293.3:c.1080G>T	NP_954987.2:p.Leu360=