Canonical Allele Identifier: CA1948003260

Gene: TH

Linked Data

• dbSNP Id: rs1846049869
• gnomAD v4: 11-2165099-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165099G>A , CM000673.2:g.2165099G>A	GRCh38
NC_000011.9:g.2186329G>A , CM000673.1:g.2186329G>A	GRCh37
NC_000011.8:g.2142905G>A	NCBI36
NG_007114.1:g.1096C>T
NG_008128.1:g.11707C>T
NG_050578.1:g.1111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1334+133C>T MANE Select	ENSP00000325951.4:n.1334+133C>T
ENST00000333684.9:c.1052+133C>T	ENSP00000328814.6:n.1052+133C>T
ENST00000352909.7:c.1334+133C>T	ENSP00000325951.3:n.1334+133C>T
ENST00000381175.5:c.1415+133C>T	ENSP00000370567.1:n.1415+133C>T
ENST00000381178.5:c.1427+133C>T	ENSP00000370571.1:n.1427+133C>T
NM_000360.3:c.1334+133C>T	NP_000351.2:n.1334+133C>T
NM_199292.2:c.1427+133C>T	NP_954986.2:n.1427+133C>T
NM_199293.2:c.1415+133C>T	NP_954987.2:n.1415+133C>T
XM_011520335.1:c.1346+133C>T	XP_011518637.1:n.1346+133C>T
XM_011520335.2:c.1346+133C>T	XP_011518637.1:n.1346+133C>T
NM_000360.4:c.1334+133C>T MANE Select	NP_000351.2:n.1334+133C>T
NM_199292.3:c.1427+133C>T	NP_954986.2:n.1427+133C>T
NM_199293.3:c.1415+133C>T	NP_954987.2:n.1415+133C>T