Canonical Allele Identifier: CA2611980336

Gene: TH

Linked Data

• ClinVar Variation Id: 2752783
• ClinVar RCV Id: RCV003511774
• gnomAD v4: 11-2169884-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169884G>A , CM000673.2:g.2169884G>A	GRCh38
NC_000011.9:g.2191114G>A , CM000673.1:g.2191114G>A	GRCh37
NC_000011.8:g.2147690G>A	NCBI36
NG_008128.1:g.6922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.91-13C>T MANE Select	ENSP00000325951.4:n.91-13C>T
ENST00000324155.8:c.91-189C>T	ENSP00000325831.3:n.91-189C>T
ENST00000333684.9:c.91-13C>T	ENSP00000328814.6:n.91-13C>T
ENST00000352909.7:c.91-13C>T	ENSP00000325951.3:n.91-13C>T
ENST00000381168.7:c.103-189C>T	ENSP00000370560.3:n.103-189C>T
ENST00000381175.5:c.172-13C>T	ENSP00000370567.1:n.172-13C>T
ENST00000381178.5:c.184-13C>T	ENSP00000370571.1:n.184-13C>T
NM_000360.3:c.91-13C>T	NP_000351.2:n.91-13C>T
NM_199292.2:c.184-13C>T	NP_954986.2:n.184-13C>T
NM_199293.2:c.172-13C>T	NP_954987.2:n.172-13C>T
XM_011520335.1:c.103-13C>T	XP_011518637.1:n.103-13C>T
XM_011520335.2:c.103-13C>T	XP_011518637.1:n.103-13C>T
NM_000360.4:c.91-13C>T MANE Select	NP_000351.2:n.91-13C>T
NM_199292.3:c.184-13C>T	NP_954986.2:n.184-13C>T
NM_199293.3:c.172-13C>T	NP_954987.2:n.172-13C>T