Canonical Allele Identifier: CA379126812

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188188A>C (hg19) ; chr11:g.2166958A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166958A>C , CM000673.2:g.2166958A>C	GRCh38
NC_000011.9:g.2188188A>C , CM000673.1:g.2188188A>C	GRCh37
NC_000011.8:g.2144764A>C	NCBI36
NG_008128.1:g.9848T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.770T>G MANE Select	ENSP00000325951.4:p.Leu257Trp
ENST00000324155.8:c.*459T>G	ENSP00000325831.3:n.*459T>G
ENST00000333684.9:c.696-409T>G	ENSP00000328814.6:n.696-409T>G
ENST00000352909.7:c.770T>G	ENSP00000325951.3:p.Leu257Trp
ENST00000381168.7:c.*490T>G	ENSP00000370560.3:n.*490T>G
ENST00000381175.5:c.851T>G	ENSP00000370567.1:p.Leu284Trp
ENST00000381178.5:c.863T>G	ENSP00000370571.1:p.Leu288Trp
ENST00000412076.1:c.136-409T>G
ENST00000416223.5:c.136-190T>G
ENST00000469226.1:n.899T>G
ENST00000479437.5:n.319T>G
NM_000360.3:c.770T>G	NP_000351.2:p.Leu257Trp
NM_199292.2:c.863T>G	NP_954986.2:p.Leu288Trp
NM_199293.2:c.851T>G	NP_954987.2:p.Leu284Trp
XM_011520335.1:c.782T>G	XP_011518637.1:p.Leu261Trp
XM_011520335.2:c.782T>G	XP_011518637.1:p.Leu261Trp
NM_000360.4:c.770T>G MANE Select	NP_000351.2:p.Leu257Trp
NM_199292.3:c.863T>G	NP_954986.2:p.Leu288Trp
NM_199293.3:c.851T>G	NP_954987.2:p.Leu284Trp