Canonical Allele Identifier: CA379112167

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2190905A>T (hg19) ; chr11:g.2169675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169675A>T , CM000673.2:g.2169675A>T	GRCh38
NC_000011.9:g.2190905A>T , CM000673.1:g.2190905A>T	GRCh37
NC_000011.8:g.2147481A>T	NCBI36
NG_008128.1:g.7131T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.287T>A MANE Select	ENSP00000325951.4:p.Leu96Gln
ENST00000324155.8:c.111T>A	ENSP00000325831.3:p.Ala37=
ENST00000333684.9:c.287T>A	ENSP00000328814.6:p.Leu96Gln
ENST00000352909.7:c.287T>A	ENSP00000325951.3:p.Leu96Gln
ENST00000381168.7:c.123T>A	ENSP00000370560.3:p.Ala41=
ENST00000381175.5:c.368T>A	ENSP00000370567.1:p.Leu123Gln
ENST00000381178.5:c.380T>A	ENSP00000370571.1:p.Leu127Gln
NM_000360.3:c.287T>A	NP_000351.2:p.Leu96Gln
NM_199292.2:c.380T>A	NP_954986.2:p.Leu127Gln
NM_199293.2:c.368T>A	NP_954987.2:p.Leu123Gln
XM_011520335.1:c.299T>A	XP_011518637.1:p.Leu100Gln
XM_011520335.2:c.299T>A	XP_011518637.1:p.Leu100Gln
NM_000360.4:c.287T>A MANE Select	NP_000351.2:p.Leu96Gln
NM_199292.3:c.380T>A	NP_954986.2:p.Leu127Gln
NM_199293.3:c.368T>A	NP_954987.2:p.Leu123Gln