Canonical Allele Identifier: CA5818740

Gene: TH

Linked Data

• ClinVar Variation Id: 1368811
• ClinVar RCV Id: RCV001867684
• dbSNP Id: rs769126179
• ExAC: 11:2190908 G / T
• gnomAD v2: 11-2190908-G-T
• gnomAD v3: 11-2169678-G-T
• gnomAD v4: 11-2169678-G-T
• MyVariant Identifiers: chr11:g.2190908G>T (hg19) ; chr11:g.2169678G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169678G>T , CM000673.2:g.2169678G>T	GRCh38
NC_000011.9:g.2190908G>T , CM000673.1:g.2190908G>T	GRCh37
NC_000011.8:g.2147484G>T	NCBI36
NG_008128.1:g.7128C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.284C>A MANE Select	ENSP00000325951.4:p.Ala95Glu
ENST00000324155.8:c.108C>A	ENSP00000325831.3:p.Gly36=
ENST00000333684.9:c.284C>A	ENSP00000328814.6:p.Ala95Glu
ENST00000352909.7:c.284C>A	ENSP00000325951.3:p.Ala95Glu
ENST00000381168.7:c.120C>A	ENSP00000370560.3:p.Gly40=
ENST00000381175.5:c.365C>A	ENSP00000370567.1:p.Ala122Glu
ENST00000381178.5:c.377C>A	ENSP00000370571.1:p.Ala126Glu
NM_000360.3:c.284C>A	NP_000351.2:p.Ala95Glu
NM_199292.2:c.377C>A	NP_954986.2:p.Ala126Glu
NM_199293.2:c.365C>A	NP_954987.2:p.Ala122Glu
XM_011520335.1:c.296C>A	XP_011518637.1:p.Ala99Glu
XM_011520335.2:c.296C>A	XP_011518637.1:p.Ala99Glu
NM_000360.4:c.284C>A MANE Select	NP_000351.2:p.Ala95Glu
NM_199292.3:c.377C>A	NP_954986.2:p.Ala126Glu
NM_199293.3:c.365C>A	NP_954987.2:p.Ala122Glu