Canonical Allele Identifier: CA5818680

Gene: TH

Linked Data

• ClinVar Variation Id: 304079
• ClinVar RCV Id: RCV000487959 ; RCV000401042
• dbSNP Id: rs376881948
• ExAC: 11:2189810 C / T
• gnomAD v2: 11-2189810-C-T
• gnomAD v3: 11-2168580-C-T
• gnomAD v4: 11-2168580-C-T
• MyVariant Identifiers: chr11:g.2189810C>T (hg19) ; chr11:g.2168580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2168580C>T , CM000673.2:g.2168580C>T	GRCh38
NC_000011.9:g.2189810C>T , CM000673.1:g.2189810C>T	GRCh37
NC_000011.8:g.2146386C>T	NCBI36
NG_008128.1:g.8226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.398G>A MANE Select	ENSP00000325951.4:p.Arg133His
ENST00000324155.8:c.*87G>A	ENSP00000325831.3:n.*87G>A
ENST00000333684.9:c.398G>A	ENSP00000328814.6:p.Arg133His
ENST00000352909.7:c.398G>A	ENSP00000325951.3:p.Arg133His
ENST00000381168.7:c.*87G>A	ENSP00000370560.3:n.*87G>A
ENST00000381175.5:c.479G>A	ENSP00000370567.1:p.Arg160His
ENST00000381178.5:c.491G>A	ENSP00000370571.1:p.Arg164His
ENST00000469226.1:n.147G>A
NM_000360.3:c.398G>A	NP_000351.2:p.Arg133His
NM_199292.2:c.491G>A	NP_954986.2:p.Arg164His
NM_199293.2:c.479G>A	NP_954987.2:p.Arg160His
XM_011520335.1:c.410G>A	XP_011518637.1:p.Arg137His
XM_011520335.2:c.410G>A	XP_011518637.1:p.Arg137His
NM_000360.4:c.398G>A MANE Select	NP_000351.2:p.Arg133His
NM_199292.3:c.491G>A	NP_954986.2:p.Arg164His
NM_199293.3:c.479G>A	NP_954987.2:p.Arg160His