Canonical Allele Identifier: CA379126253

Gene: TH

Linked Data

• ClinVar Variation Id: 2090085
• ClinVar RCV Id: RCV003020732
• gnomAD v4: 11-2166709-C-A
• MyVariant Identifiers: chr11:g.2187939C>A (hg19) ; chr11:g.2166709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166709C>A , CM000673.2:g.2166709C>A	GRCh38
NC_000011.9:g.2187939C>A , CM000673.1:g.2187939C>A	GRCh37
NC_000011.8:g.2144515C>A	NCBI36
NG_008128.1:g.10097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.901G>T MANE Select	ENSP00000325951.4:p.Ala301Ser
ENST00000324155.8:c.*590G>T	ENSP00000325831.3:n.*590G>T
ENST00000333684.9:c.696-160G>T	ENSP00000328814.6:n.696-160G>T
ENST00000352909.7:c.901G>T	ENSP00000325951.3:p.Ala301Ser
ENST00000381168.7:c.*621G>T	ENSP00000370560.3:n.*621G>T
ENST00000381175.5:c.982G>T	ENSP00000370567.1:p.Ala328Ser
ENST00000381178.5:c.994G>T	ENSP00000370571.1:p.Ala332Ser
ENST00000412076.1:c.136-160G>T
ENST00000416223.5:c.195G>T
ENST00000461172.1:n.66G>T
ENST00000479437.5:n.450G>T
NM_000360.3:c.901G>T	NP_000351.2:p.Ala301Ser
NM_199292.2:c.994G>T	NP_954986.2:p.Ala332Ser
NM_199293.2:c.982G>T	NP_954987.2:p.Ala328Ser
XM_011520335.1:c.913G>T	XP_011518637.1:p.Ala305Ser
XM_011520335.2:c.913G>T	XP_011518637.1:p.Ala305Ser
NM_000360.4:c.901G>T MANE Select	NP_000351.2:p.Ala301Ser
NM_199292.3:c.994G>T	NP_954986.2:p.Ala332Ser
NM_199293.3:c.982G>T	NP_954987.2:p.Ala328Ser