Canonical Allele Identifier: CA216227846

Gene: TH

Linked Data

• ClinVar Variation Id: 2084662
• ClinVar RCV Id: RCV003011251 ; RCV003269386
• dbSNP Id: rs1031644143
• gnomAD v2: 11-2191095-G-A
• gnomAD v3: 11-2169865-G-A
• gnomAD v4: 11-2169865-G-A
• MyVariant Identifiers: chr11:g.2191095G>A (hg19) ; chr11:g.2169865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169865G>A , CM000673.2:g.2169865G>A	GRCh38
NC_000011.9:g.2191095G>A , CM000673.1:g.2191095G>A	GRCh37
NC_000011.8:g.2147671G>A	NCBI36
NG_008128.1:g.6941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.97C>T MANE Select	ENSP00000325951.4:p.Arg33Trp
ENST00000324155.8:c.91-170C>T	ENSP00000325831.3:n.91-170C>T
ENST00000333684.9:c.97C>T	ENSP00000328814.6:p.Arg33Trp
ENST00000352909.7:c.97C>T	ENSP00000325951.3:p.Arg33Trp
ENST00000381168.7:c.103-170C>T	ENSP00000370560.3:n.103-170C>T
ENST00000381175.5:c.178C>T	ENSP00000370567.1:p.Arg60Trp
ENST00000381178.5:c.190C>T	ENSP00000370571.1:p.Arg64Trp
NM_000360.3:c.97C>T	NP_000351.2:p.Arg33Trp
NM_199292.2:c.190C>T	NP_954986.2:p.Arg64Trp
NM_199293.2:c.178C>T	NP_954987.2:p.Arg60Trp
XM_011520335.1:c.109C>T	XP_011518637.1:p.Arg37Trp
XM_011520335.2:c.109C>T	XP_011518637.1:p.Arg37Trp
NM_000360.4:c.97C>T MANE Select	NP_000351.2:p.Arg33Trp
NM_199292.3:c.190C>T	NP_954986.2:p.Arg64Trp
NM_199293.3:c.178C>T	NP_954987.2:p.Arg60Trp