Canonical Allele Identifier: CA379127509

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188710T>A (hg19) ; chr11:g.2167480T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167480T>A , CM000673.2:g.2167480T>A	GRCh38
NC_000011.9:g.2188710T>A , CM000673.1:g.2188710T>A	GRCh37
NC_000011.8:g.2145286T>A	NCBI36
NG_008128.1:g.9326A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.650A>T MANE Select	ENSP00000325951.4:p.Asp217Val
ENST00000324155.8:c.*339A>T	ENSP00000325831.3:n.*339A>T
ENST00000333684.9:c.650A>T	ENSP00000328814.6:p.Asp217Val
ENST00000352909.7:c.650A>T	ENSP00000325951.3:p.Asp217Val
ENST00000381168.7:c.*370A>T	ENSP00000370560.3:n.*370A>T
ENST00000381175.5:c.731A>T	ENSP00000370567.1:p.Asp244Val
ENST00000381178.5:c.743A>T	ENSP00000370571.1:p.Asp248Val
ENST00000412076.1:c.90A>T
ENST00000416223.5:c.90A>T
ENST00000469226.1:n.779A>T
NM_000360.3:c.650A>T	NP_000351.2:p.Asp217Val
NM_199292.2:c.743A>T	NP_954986.2:p.Asp248Val
NM_199293.2:c.731A>T	NP_954987.2:p.Asp244Val
XM_011520335.1:c.662A>T	XP_011518637.1:p.Asp221Val
XM_011520335.2:c.662A>T	XP_011518637.1:p.Asp221Val
NM_000360.4:c.650A>T MANE Select	NP_000351.2:p.Asp217Val
NM_199292.3:c.743A>T	NP_954986.2:p.Asp248Val
NM_199293.3:c.731A>T	NP_954987.2:p.Asp244Val