Canonical Allele Identifier: CA472414359

Gene: TH

Linked Data

• ClinVar Variation Id: 2147353
• ClinVar RCV Id: RCV003077145
• dbSNP Id: rs1213545562
• gnomAD v2: 11-2188214-G-A
• gnomAD v4: 11-2166984-G-A
• MyVariant Identifiers: chr11:g.2188214G>A (hg19) ; chr11:g.2166984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166984G>A , CM000673.2:g.2166984G>A	GRCh38
NC_000011.9:g.2188214G>A , CM000673.1:g.2188214G>A	GRCh37
NC_000011.8:g.2144790G>A	NCBI36
NG_008128.1:g.9822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.744C>T MANE Select	ENSP00000325951.4:p.Cys248=
ENST00000324155.8:c.*433C>T	ENSP00000325831.3:n.*433C>T
ENST00000333684.9:c.696-435C>T	ENSP00000328814.6:n.696-435C>T
ENST00000352909.7:c.744C>T	ENSP00000325951.3:p.Cys248=
ENST00000381168.7:c.*464C>T	ENSP00000370560.3:n.*464C>T
ENST00000381175.5:c.825C>T	ENSP00000370567.1:p.Cys275=
ENST00000381178.5:c.837C>T	ENSP00000370571.1:p.Cys279=
ENST00000412076.1:c.136-435C>T
ENST00000416223.5:c.136-216C>T
ENST00000469226.1:n.873C>T
ENST00000479437.5:n.293C>T
NM_000360.3:c.744C>T	NP_000351.2:p.Cys248=
NM_199292.2:c.837C>T	NP_954986.2:p.Cys279=
NM_199293.2:c.825C>T	NP_954987.2:p.Cys275=
XM_011520335.1:c.756C>T	XP_011518637.1:p.Cys252=
XM_011520335.2:c.756C>T	XP_011518637.1:p.Cys252=
NM_000360.4:c.744C>T MANE Select	NP_000351.2:p.Cys248=
NM_199292.3:c.837C>T	NP_954986.2:p.Cys279=
NM_199293.3:c.825C>T	NP_954987.2:p.Cys275=