Canonical Allele Identifier: CA379127083

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188243G>C (hg19) ; chr11:g.2167013G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167013G>C , CM000673.2:g.2167013G>C	GRCh38
NC_000011.9:g.2188243G>C , CM000673.1:g.2188243G>C	GRCh37
NC_000011.8:g.2144819G>C	NCBI36
NG_008128.1:g.9793C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.715C>G MANE Select	ENSP00000325951.4:p.Leu239Val
ENST00000324155.8:c.*404C>G	ENSP00000325831.3:n.*404C>G
ENST00000333684.9:c.695+422C>G	ENSP00000328814.6:n.695+422C>G
ENST00000352909.7:c.715C>G	ENSP00000325951.3:p.Leu239Val
ENST00000381168.7:c.*435C>G	ENSP00000370560.3:n.*435C>G
ENST00000381175.5:c.796C>G	ENSP00000370567.1:p.Leu266Val
ENST00000381178.5:c.808C>G	ENSP00000370571.1:p.Leu270Val
ENST00000412076.1:c.135+422C>G
ENST00000416223.5:c.136-245C>G
ENST00000469226.1:n.844C>G
ENST00000479437.5:n.264C>G
NM_000360.3:c.715C>G	NP_000351.2:p.Leu239Val
NM_199292.2:c.808C>G	NP_954986.2:p.Leu270Val
NM_199293.2:c.796C>G	NP_954987.2:p.Leu266Val
XM_011520335.1:c.727C>G	XP_011518637.1:p.Leu243Val
XM_011520335.2:c.727C>G	XP_011518637.1:p.Leu243Val
NM_000360.4:c.715C>G MANE Select	NP_000351.2:p.Leu239Val
NM_199292.3:c.808C>G	NP_954986.2:p.Leu270Val
NM_199293.3:c.796C>G	NP_954987.2:p.Leu266Val