Canonical Allele Identifier: CA597090458

Gene: TH

Linked Data

• dbSNP Id: rs758927074
• gnomAD v2: 11-2189210-G-T
• gnomAD v4: 11-2167980-G-T
• MyVariant Identifiers: chr11:g.2189210G>T (hg19) ; chr11:g.2167980G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167980G>T , CM000673.2:g.2167980G>T	GRCh38
NC_000011.9:g.2189210G>T , CM000673.1:g.2189210G>T	GRCh37
NC_000011.8:g.2145786G>T	NCBI36
NG_008128.1:g.8826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.577-47C>A MANE Select	ENSP00000325951.4:n.577-47C>A
ENST00000324155.8:c.*266-47C>A	ENSP00000325831.3:n.*266-47C>A
ENST00000333684.9:c.577-47C>A	ENSP00000328814.6:n.577-47C>A
ENST00000352909.7:c.577-47C>A	ENSP00000325951.3:n.577-47C>A
ENST00000381168.7:c.*266-47C>A	ENSP00000370560.3:n.*266-47C>A
ENST00000381175.5:c.658-47C>A	ENSP00000370567.1:n.658-47C>A
ENST00000381178.5:c.670-47C>A	ENSP00000370571.1:n.670-47C>A
ENST00000412076.1:c.17-47C>A
ENST00000416223.5:c.17-47C>A
ENST00000469226.1:n.326-47C>A
NM_000360.3:c.577-47C>A	NP_000351.2:n.577-47C>A
NM_199292.2:c.670-47C>A	NP_954986.2:n.670-47C>A
NM_199293.2:c.658-47C>A	NP_954987.2:n.658-47C>A
XM_011520335.1:c.589-47C>A	XP_011518637.1:n.589-47C>A
XM_011520335.2:c.589-47C>A	XP_011518637.1:n.589-47C>A
NM_000360.4:c.577-47C>A MANE Select	NP_000351.2:n.577-47C>A
NM_199292.3:c.670-47C>A	NP_954986.2:n.670-47C>A
NM_199293.3:c.658-47C>A	NP_954987.2:n.658-47C>A