Canonical Allele Identifier: CA5818732

Gene: TH

Linked Data

• ClinVar Variation Id: 2201146
• ClinVar RCV Id: RCV002638585
• dbSNP Id: rs375214998
• ExAC: 11:2190899 C / T
• gnomAD v2: 11-2190899-C-T
• gnomAD v3: 11-2169669-C-T
• gnomAD v4: 11-2169669-C-T
• MyVariant Identifiers: chr11:g.2190899C>T (hg19) ; chr11:g.2169669C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169669C>T , CM000673.2:g.2169669C>T	GRCh38
NC_000011.9:g.2190899C>T , CM000673.1:g.2190899C>T	GRCh37
NC_000011.8:g.2147475C>T	NCBI36
NG_008128.1:g.7137G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.293G>A MANE Select	ENSP00000325951.4:p.Arg98Gln
ENST00000324155.8:c.117G>A	ENSP00000325831.3:p.Pro39=
ENST00000333684.9:c.293G>A	ENSP00000328814.6:p.Arg98Gln
ENST00000352909.7:c.293G>A	ENSP00000325951.3:p.Arg98Gln
ENST00000381168.7:c.129G>A	ENSP00000370560.3:p.Pro43=
ENST00000381175.5:c.374G>A	ENSP00000370567.1:p.Arg125Gln
ENST00000381178.5:c.386G>A	ENSP00000370571.1:p.Arg129Gln
NM_000360.3:c.293G>A	NP_000351.2:p.Arg98Gln
NM_199292.2:c.386G>A	NP_954986.2:p.Arg129Gln
NM_199293.2:c.374G>A	NP_954987.2:p.Arg125Gln
XM_011520335.1:c.305G>A	XP_011518637.1:p.Arg102Gln
XM_011520335.2:c.305G>A	XP_011518637.1:p.Arg102Gln
NM_000360.4:c.293G>A MANE Select	NP_000351.2:p.Arg98Gln
NM_199292.3:c.386G>A	NP_954986.2:p.Arg129Gln
NM_199293.3:c.374G>A	NP_954987.2:p.Arg125Gln