Canonical Allele Identifier: CA2611980285

Gene: TH

Linked Data

• gnomAD v4: 11-2169874-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169874G>A , CM000673.2:g.2169874G>A	GRCh38
NC_000011.9:g.2191104G>A , CM000673.1:g.2191104G>A	GRCh37
NC_000011.8:g.2147680G>A	NCBI36
NG_008128.1:g.6932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.91-3C>T MANE Select	ENSP00000325951.4:n.91-3C>T
ENST00000324155.8:c.91-179C>T	ENSP00000325831.3:n.91-179C>T
ENST00000333684.9:c.91-3C>T	ENSP00000328814.6:n.91-3C>T
ENST00000352909.7:c.91-3C>T	ENSP00000325951.3:n.91-3C>T
ENST00000381168.7:c.103-179C>T	ENSP00000370560.3:n.103-179C>T
ENST00000381175.5:c.172-3C>T	ENSP00000370567.1:n.172-3C>T
ENST00000381178.5:c.184-3C>T	ENSP00000370571.1:n.184-3C>T
NM_000360.3:c.91-3C>T	NP_000351.2:n.91-3C>T
NM_199292.2:c.184-3C>T	NP_954986.2:n.184-3C>T
NM_199293.2:c.172-3C>T	NP_954987.2:n.172-3C>T
XM_011520335.1:c.103-3C>T	XP_011518637.1:n.103-3C>T
XM_011520335.2:c.103-3C>T	XP_011518637.1:n.103-3C>T
NM_000360.4:c.91-3C>T MANE Select	NP_000351.2:n.91-3C>T
NM_199292.3:c.184-3C>T	NP_954986.2:n.184-3C>T
NM_199293.3:c.172-3C>T	NP_954987.2:n.172-3C>T