Canonical Allele Identifier: CA379112332

Gene: TH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.203T>G MANE Select	ENSP00000325951.4:p.Leu68Arg
ENST00000324155.8:c.91-64T>G	ENSP00000325831.3:n.91-64T>G
ENST00000333684.9:c.203T>G	ENSP00000328814.6:p.Leu68Arg
ENST00000352909.7:c.203T>G	ENSP00000325951.3:p.Leu68Arg
ENST00000381168.7:c.103-64T>G	ENSP00000370560.3:n.103-64T>G
ENST00000381175.5:c.284T>G	ENSP00000370567.1:p.Leu95Arg
ENST00000381178.5:c.296T>G	ENSP00000370571.1:p.Leu99Arg
NM_000360.3:c.203T>G	NP_000351.2:p.Leu68Arg
NM_199292.2:c.296T>G	NP_954986.2:p.Leu99Arg
NM_199293.2:c.284T>G	NP_954987.2:p.Leu95Arg
XM_011520335.1:c.215T>G	XP_011518637.1:p.Leu72Arg
XM_011520335.2:c.215T>G	XP_011518637.1:p.Leu72Arg
NM_000360.4:c.203T>G MANE Select	NP_000351.2:p.Leu68Arg
NM_199292.3:c.296T>G	NP_954986.2:p.Leu99Arg
NM_199293.3:c.284T>G	NP_954987.2:p.Leu95Arg