Canonical Allele Identifier: CA379126763

Gene: TH

Linked Data

• gnomAD v4: 11-2166947-A-G
• MyVariant Identifiers: chr11:g.2188177A>G (hg19) ; chr11:g.2166947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166947A>G , CM000673.2:g.2166947A>G	GRCh38
NC_000011.9:g.2188177A>G , CM000673.1:g.2188177A>G	GRCh37
NC_000011.8:g.2144753A>G	NCBI36
NG_008128.1:g.9859T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.781T>C MANE Select	ENSP00000325951.4:p.Phe261Leu
ENST00000324155.8:c.*470T>C	ENSP00000325831.3:n.*470T>C
ENST00000333684.9:c.696-398T>C	ENSP00000328814.6:n.696-398T>C
ENST00000352909.7:c.781T>C	ENSP00000325951.3:p.Phe261Leu
ENST00000381168.7:c.*501T>C	ENSP00000370560.3:n.*501T>C
ENST00000381175.5:c.862T>C	ENSP00000370567.1:p.Phe288Leu
ENST00000381178.5:c.874T>C	ENSP00000370571.1:p.Phe292Leu
ENST00000412076.1:c.136-398T>C
ENST00000416223.5:c.136-179T>C
ENST00000469226.1:n.910T>C
ENST00000479437.5:n.330T>C
NM_000360.3:c.781T>C	NP_000351.2:p.Phe261Leu
NM_199292.2:c.874T>C	NP_954986.2:p.Phe292Leu
NM_199293.2:c.862T>C	NP_954987.2:p.Phe288Leu
XM_011520335.1:c.793T>C	XP_011518637.1:p.Phe265Leu
XM_011520335.2:c.793T>C	XP_011518637.1:p.Phe265Leu
NM_000360.4:c.781T>C MANE Select	NP_000351.2:p.Phe261Leu
NM_199292.3:c.874T>C	NP_954986.2:p.Phe292Leu
NM_199293.3:c.862T>C	NP_954987.2:p.Phe288Leu