Canonical Allele Identifier: CA379112334

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2190989A>T (hg19) ; chr11:g.2169759A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169759A>T , CM000673.2:g.2169759A>T	GRCh38
NC_000011.9:g.2190989A>T , CM000673.1:g.2190989A>T	GRCh37
NC_000011.8:g.2147565A>T	NCBI36
NG_008128.1:g.7047T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.203T>A MANE Select	ENSP00000325951.4:p.Leu68Gln
ENST00000324155.8:c.91-64T>A	ENSP00000325831.3:n.91-64T>A
ENST00000333684.9:c.203T>A	ENSP00000328814.6:p.Leu68Gln
ENST00000352909.7:c.203T>A	ENSP00000325951.3:p.Leu68Gln
ENST00000381168.7:c.103-64T>A	ENSP00000370560.3:n.103-64T>A
ENST00000381175.5:c.284T>A	ENSP00000370567.1:p.Leu95Gln
ENST00000381178.5:c.296T>A	ENSP00000370571.1:p.Leu99Gln
NM_000360.3:c.203T>A	NP_000351.2:p.Leu68Gln
NM_199292.2:c.296T>A	NP_954986.2:p.Leu99Gln
NM_199293.2:c.284T>A	NP_954987.2:p.Leu95Gln
XM_011520335.1:c.215T>A	XP_011518637.1:p.Leu72Gln
XM_011520335.2:c.215T>A	XP_011518637.1:p.Leu72Gln
NM_000360.4:c.203T>A MANE Select	NP_000351.2:p.Leu68Gln
NM_199292.3:c.296T>A	NP_954986.2:p.Leu99Gln
NM_199293.3:c.284T>A	NP_954987.2:p.Leu95Gln