Canonical Allele Identifier: CA379126026

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187759A>T (hg19) ; chr11:g.2166529A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166529A>T , CM000673.2:g.2166529A>T	GRCh38
NC_000011.9:g.2187759A>T , CM000673.1:g.2187759A>T	GRCh37
NC_000011.8:g.2144335A>T	NCBI36
NG_008128.1:g.10277T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.998T>A MANE Select	ENSP00000325951.4:p.Leu333Gln
ENST00000324155.8:c.*687T>A	ENSP00000325831.3:n.*687T>A
ENST00000333684.9:c.716T>A	ENSP00000328814.6:p.Leu239Gln
ENST00000352909.7:c.998T>A	ENSP00000325951.3:p.Leu333Gln
ENST00000381168.7:c.*718T>A	ENSP00000370560.3:n.*718T>A
ENST00000381175.5:c.1079T>A	ENSP00000370567.1:p.Leu360Gln
ENST00000381178.5:c.1091T>A	ENSP00000370571.1:p.Leu364Gln
ENST00000412076.1:c.156T>A
ENST00000416223.5:c.292T>A
ENST00000461172.1:n.163T>A
ENST00000479437.5:n.547T>A
NM_000360.3:c.998T>A	NP_000351.2:p.Leu333Gln
NM_199292.2:c.1091T>A	NP_954986.2:p.Leu364Gln
NM_199293.2:c.1079T>A	NP_954987.2:p.Leu360Gln
XM_011520335.1:c.1010T>A	XP_011518637.1:p.Leu337Gln
XM_011520335.2:c.1010T>A	XP_011518637.1:p.Leu337Gln
NM_000360.4:c.998T>A MANE Select	NP_000351.2:p.Leu333Gln
NM_199292.3:c.1091T>A	NP_954986.2:p.Leu364Gln
NM_199293.3:c.1079T>A	NP_954987.2:p.Leu360Gln