Canonical Allele Identifier: CA934419511

Gene: TH

Linked Data

• dbSNP Id: rs1846140337
• gnomAD v3: 11-2167813-C-A
• gnomAD v4: 11-2167813-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167813C>A , CM000673.2:g.2167813C>A	GRCh38
NC_000011.9:g.2189043C>A , CM000673.1:g.2189043C>A	GRCh37
NC_000011.8:g.2145619C>A	NCBI36
NG_008128.1:g.8993G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.644+53G>T MANE Select	ENSP00000325951.4:n.644+53G>T
ENST00000324155.8:c.*333+53G>T	ENSP00000325831.3:n.*333+53G>T
ENST00000333684.9:c.644+53G>T	ENSP00000328814.6:n.644+53G>T
ENST00000352909.7:c.644+53G>T	ENSP00000325951.3:n.644+53G>T
ENST00000381168.7:c.*333+53G>T	ENSP00000370560.3:n.*333+53G>T
ENST00000381175.5:c.725+53G>T	ENSP00000370567.1:n.725+53G>T
ENST00000381178.5:c.737+53G>T	ENSP00000370571.1:n.737+53G>T
ENST00000412076.1:c.84+53G>T
ENST00000416223.5:c.84+53G>T
ENST00000469226.1:n.446G>T
NM_000360.3:c.644+53G>T	NP_000351.2:n.644+53G>T
NM_199292.2:c.737+53G>T	NP_954986.2:n.737+53G>T
NM_199293.2:c.725+53G>T	NP_954987.2:n.725+53G>T
XM_011520335.1:c.656+53G>T	XP_011518637.1:n.656+53G>T
XM_011520335.2:c.656+53G>T	XP_011518637.1:n.656+53G>T
NM_000360.4:c.644+53G>T MANE Select	NP_000351.2:n.644+53G>T
NM_199292.3:c.737+53G>T	NP_954986.2:n.737+53G>T
NM_199293.3:c.725+53G>T	NP_954987.2:n.725+53G>T