Canonical Allele Identifier: CA379112490

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2191068T>G (hg19) ; chr11:g.2169838T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169838T>G , CM000673.2:g.2169838T>G	GRCh38
NC_000011.9:g.2191068T>G , CM000673.1:g.2191068T>G	GRCh37
NC_000011.8:g.2147644T>G	NCBI36
NG_008128.1:g.6968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.124A>C MANE Select	ENSP00000325951.4:p.Ile42Leu
ENST00000324155.8:c.91-143A>C	ENSP00000325831.3:n.91-143A>C
ENST00000333684.9:c.124A>C	ENSP00000328814.6:p.Ile42Leu
ENST00000352909.7:c.124A>C	ENSP00000325951.3:p.Ile42Leu
ENST00000381168.7:c.103-143A>C	ENSP00000370560.3:n.103-143A>C
ENST00000381175.5:c.205A>C	ENSP00000370567.1:p.Ile69Leu
ENST00000381178.5:c.217A>C	ENSP00000370571.1:p.Ile73Leu
NM_000360.3:c.124A>C	NP_000351.2:p.Ile42Leu
NM_199292.2:c.217A>C	NP_954986.2:p.Ile73Leu
NM_199293.2:c.205A>C	NP_954987.2:p.Ile69Leu
XM_011520335.1:c.136A>C	XP_011518637.1:p.Ile46Leu
XM_011520335.2:c.136A>C	XP_011518637.1:p.Ile46Leu
NM_000360.4:c.124A>C MANE Select	NP_000351.2:p.Ile42Leu
NM_199292.3:c.217A>C	NP_954986.2:p.Ile73Leu
NM_199293.3:c.205A>C	NP_954987.2:p.Ile69Leu