Canonical Allele Identifier: CA379127153

Gene: TH

Linked Data

• ClinVar Variation Id: 2147774
• ClinVar RCV Id: RCV003068517
• dbSNP Id: rs1324380637
• gnomAD v2: 11-2188256-C-A
• gnomAD v4: 11-2167026-C-A
• MyVariant Identifiers: chr11:g.2188256C>A (hg19) ; chr11:g.2167026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167026C>A , CM000673.2:g.2167026C>A	GRCh38
NC_000011.9:g.2188256C>A , CM000673.1:g.2188256C>A	GRCh37
NC_000011.8:g.2144832C>A	NCBI36
NG_008128.1:g.9780G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.702G>T MANE Select	ENSP00000325951.4:p.Glu234Asp
ENST00000324155.8:c.*391G>T	ENSP00000325831.3:n.*391G>T
ENST00000333684.9:c.695+409G>T	ENSP00000328814.6:n.695+409G>T
ENST00000352909.7:c.702G>T	ENSP00000325951.3:p.Glu234Asp
ENST00000381168.7:c.*422G>T	ENSP00000370560.3:n.*422G>T
ENST00000381175.5:c.783G>T	ENSP00000370567.1:p.Glu261Asp
ENST00000381178.5:c.795G>T	ENSP00000370571.1:p.Glu265Asp
ENST00000412076.1:c.135+409G>T
ENST00000416223.5:c.136-258G>T
ENST00000469226.1:n.831G>T
ENST00000479437.5:n.251G>T
NM_000360.3:c.702G>T	NP_000351.2:p.Glu234Asp
NM_199292.2:c.795G>T	NP_954986.2:p.Glu265Asp
NM_199293.2:c.783G>T	NP_954987.2:p.Glu261Asp
XM_011520335.1:c.714G>T	XP_011518637.1:p.Glu238Asp
XM_011520335.2:c.714G>T	XP_011518637.1:p.Glu238Asp
NM_000360.4:c.702G>T MANE Select	NP_000351.2:p.Glu234Asp
NM_199292.3:c.795G>T	NP_954986.2:p.Glu265Asp
NM_199293.3:c.783G>T	NP_954987.2:p.Glu261Asp