Canonical Allele Identifier: CA934420847

Gene: TH

Linked Data

• dbSNP Id: rs1846260264
• gnomAD v3: 11-2171592-C-CCTGA
• gnomAD v4: 11-2171592-C-CCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171593_2171596dup , CM000673.2:g.2171593_2171596dup	GRCh38
NC_000011.9:g.2192823_2192826dup , CM000673.1:g.2192823_2192826dup	GRCh37
NC_000011.8:g.2149399_2149402dup	NCBI36
NG_008128.1:g.5210_5213dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+101_90+104dup MANE Select	ENSP00000325951.4:n.90+101_90+104dup
ENST00000324155.8:c.90+101_90+104dup	ENSP00000325831.3:n.90+101_90+104dup
ENST00000333684.9:c.90+101_90+104dup	ENSP00000328814.6:n.90+101_90+104dup
ENST00000352909.7:c.90+101_90+104dup	ENSP00000325951.3:n.90+101_90+104dup
ENST00000381168.7:c.102+89_102+92dup	ENSP00000370560.3:n.102+89_102+92dup
ENST00000381175.5:c.90+101_90+104dup	ENSP00000370567.1:n.90+101_90+104dup
ENST00000381178.5:c.102+89_102+92dup	ENSP00000370571.1:n.102+89_102+92dup
NM_000360.3:c.90+101_90+104dup	NP_000351.2:n.90+101_90+104dup
NM_199292.2:c.102+89_102+92dup	NP_954986.2:n.102+89_102+92dup
NM_199293.2:c.90+101_90+104dup	NP_954987.2:n.90+101_90+104dup
XM_011520335.1:c.102+89_102+92dup	XP_011518637.1:n.102+89_102+92dup
XM_011520335.2:c.102+89_102+92dup	XP_011518637.1:n.102+89_102+92dup
NM_000360.4:c.90+101_90+104dup MANE Select	NP_000351.2:n.90+101_90+104dup
NM_199292.3:c.102+89_102+92dup	NP_954986.2:n.102+89_102+92dup
NM_199293.3:c.90+101_90+104dup	NP_954987.2:n.90+101_90+104dup