Canonical Allele Identifier: CA2611963692

Gene: TH

Linked Data

• ClinVar Variation Id: 2908003
• ClinVar RCV Id: RCV003624906
• gnomAD v4: 11-2166775-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166775G>A , CM000673.2:g.2166775G>A	GRCh38
NC_000011.9:g.2188005G>A , CM000673.1:g.2188005G>A	GRCh37
NC_000011.8:g.2144581G>A	NCBI36
NG_008128.1:g.10031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.842-7C>T MANE Select	ENSP00000325951.4:n.842-7C>T
ENST00000324155.8:c.*531-7C>T	ENSP00000325831.3:n.*531-7C>T
ENST00000333684.9:c.696-226C>T	ENSP00000328814.6:n.696-226C>T
ENST00000352909.7:c.842-7C>T	ENSP00000325951.3:n.842-7C>T
ENST00000381168.7:c.*562-7C>T	ENSP00000370560.3:n.*562-7C>T
ENST00000381175.5:c.923-7C>T	ENSP00000370567.1:n.923-7C>T
ENST00000381178.5:c.935-7C>T	ENSP00000370571.1:n.935-7C>T
ENST00000412076.1:c.136-226C>T
ENST00000416223.5:c.136-7C>T
ENST00000479437.5:n.391-7C>T
NM_000360.3:c.842-7C>T	NP_000351.2:n.842-7C>T
NM_199292.2:c.935-7C>T	NP_954986.2:n.935-7C>T
NM_199293.2:c.923-7C>T	NP_954987.2:n.923-7C>T
XM_011520335.1:c.854-7C>T	XP_011518637.1:n.854-7C>T
XM_011520335.2:c.854-7C>T	XP_011518637.1:n.854-7C>T
NM_000360.4:c.842-7C>T MANE Select	NP_000351.2:n.842-7C>T
NM_199292.3:c.935-7C>T	NP_954986.2:n.935-7C>T
NM_199293.3:c.923-7C>T	NP_954987.2:n.923-7C>T