Canonical Allele Identifier: CA379126410

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187992G>T (hg19) ; chr11:g.2166762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166762G>T , CM000673.2:g.2166762G>T	GRCh38
NC_000011.9:g.2187992G>T , CM000673.1:g.2187992G>T	GRCh37
NC_000011.8:g.2144568G>T	NCBI36
NG_008128.1:g.10044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.848C>A MANE Select	ENSP00000325951.4:p.Thr283Lys
ENST00000324155.8:c.*537C>A	ENSP00000325831.3:n.*537C>A
ENST00000333684.9:c.696-213C>A	ENSP00000328814.6:n.696-213C>A
ENST00000352909.7:c.848C>A	ENSP00000325951.3:p.Thr283Lys
ENST00000381168.7:c.*568C>A	ENSP00000370560.3:n.*568C>A
ENST00000381175.5:c.929C>A	ENSP00000370567.1:p.Thr310Lys
ENST00000381178.5:c.941C>A	ENSP00000370571.1:p.Thr314Lys
ENST00000412076.1:c.136-213C>A
ENST00000416223.5:c.142C>A
ENST00000461172.1:n.13C>A
ENST00000479437.5:n.397C>A
NM_000360.3:c.848C>A	NP_000351.2:p.Thr283Lys
NM_199292.2:c.941C>A	NP_954986.2:p.Thr314Lys
NM_199293.2:c.929C>A	NP_954987.2:p.Thr310Lys
XM_011520335.1:c.860C>A	XP_011518637.1:p.Thr287Lys
XM_011520335.2:c.860C>A	XP_011518637.1:p.Thr287Lys
NM_000360.4:c.848C>A MANE Select	NP_000351.2:p.Thr283Lys
NM_199292.3:c.941C>A	NP_954986.2:p.Thr314Lys
NM_199293.3:c.929C>A	NP_954987.2:p.Thr310Lys