Canonical Allele Identifier: CA379126802

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188185A>T (hg19) ; chr11:g.2166955A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166955A>T , CM000673.2:g.2166955A>T	GRCh38
NC_000011.9:g.2188185A>T , CM000673.1:g.2188185A>T	GRCh37
NC_000011.8:g.2144761A>T	NCBI36
NG_008128.1:g.9851T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.773T>A MANE Select	ENSP00000325951.4:p.Leu258Gln
ENST00000324155.8:c.*462T>A	ENSP00000325831.3:n.*462T>A
ENST00000333684.9:c.696-406T>A	ENSP00000328814.6:n.696-406T>A
ENST00000352909.7:c.773T>A	ENSP00000325951.3:p.Leu258Gln
ENST00000381168.7:c.*493T>A	ENSP00000370560.3:n.*493T>A
ENST00000381175.5:c.854T>A	ENSP00000370567.1:p.Leu285Gln
ENST00000381178.5:c.866T>A	ENSP00000370571.1:p.Leu289Gln
ENST00000412076.1:c.136-406T>A
ENST00000416223.5:c.136-187T>A
ENST00000469226.1:n.902T>A
ENST00000479437.5:n.322T>A
NM_000360.3:c.773T>A	NP_000351.2:p.Leu258Gln
NM_199292.2:c.866T>A	NP_954986.2:p.Leu289Gln
NM_199293.2:c.854T>A	NP_954987.2:p.Leu285Gln
XM_011520335.1:c.785T>A	XP_011518637.1:p.Leu262Gln
XM_011520335.2:c.785T>A	XP_011518637.1:p.Leu262Gln
NM_000360.4:c.773T>A MANE Select	NP_000351.2:p.Leu258Gln
NM_199292.3:c.866T>A	NP_954986.2:p.Leu289Gln
NM_199293.3:c.854T>A	NP_954987.2:p.Leu285Gln