Canonical Allele Identifier: CA472414185

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187970C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166740C>A , CM000673.2:g.2166740C>A	GRCh38
NC_000011.9:g.2187970C>A , CM000673.1:g.2187970C>A	GRCh37
NC_000011.8:g.2144546C>A	NCBI36
NG_008128.1:g.10066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.870G>T MANE Select	ENSP00000325951.4:p.Val290=
ENST00000324155.8:c.*559G>T	ENSP00000325831.3:n.*559G>T
ENST00000333684.9:c.696-191G>T	ENSP00000328814.6:n.696-191G>T
ENST00000352909.7:c.870G>T	ENSP00000325951.3:p.Val290=
ENST00000381168.7:c.*590G>T	ENSP00000370560.3:n.*590G>T
ENST00000381175.5:c.951G>T	ENSP00000370567.1:p.Val317=
ENST00000381178.5:c.963G>T	ENSP00000370571.1:p.Val321=
ENST00000412076.1:c.136-191G>T
ENST00000416223.5:c.164G>T
ENST00000461172.1:n.35G>T
ENST00000479437.5:n.419G>T
NM_000360.3:c.870G>T	NP_000351.2:p.Val290=
NM_199292.2:c.963G>T	NP_954986.2:p.Val321=
NM_199293.2:c.951G>T	NP_954987.2:p.Val317=
XM_011520335.1:c.882G>T	XP_011518637.1:p.Val294=
XM_011520335.2:c.882G>T	XP_011518637.1:p.Val294=
NM_000360.4:c.870G>T MANE Select	NP_000351.2:p.Val290=
NM_199292.3:c.963G>T	NP_954986.2:p.Val321=
NM_199293.3:c.951G>T	NP_954987.2:p.Val317=