Canonical Allele Identifier: CA472414129

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187949C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166719C>A , CM000673.2:g.2166719C>A	GRCh38
NC_000011.9:g.2187949C>A , CM000673.1:g.2187949C>A	GRCh37
NC_000011.8:g.2144525C>A	NCBI36
NG_008128.1:g.10087G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.891G>T MANE Select	ENSP00000325951.4:p.Arg297=
ENST00000324155.8:c.*580G>T	ENSP00000325831.3:n.*580G>T
ENST00000333684.9:c.696-170G>T	ENSP00000328814.6:n.696-170G>T
ENST00000352909.7:c.891G>T	ENSP00000325951.3:p.Arg297=
ENST00000381168.7:c.*611G>T	ENSP00000370560.3:n.*611G>T
ENST00000381175.5:c.972G>T	ENSP00000370567.1:p.Arg324=
ENST00000381178.5:c.984G>T	ENSP00000370571.1:p.Arg328=
ENST00000412076.1:c.136-170G>T
ENST00000416223.5:c.185G>T
ENST00000461172.1:n.56G>T
ENST00000479437.5:n.440G>T
NM_000360.3:c.891G>T	NP_000351.2:p.Arg297=
NM_199292.2:c.984G>T	NP_954986.2:p.Arg328=
NM_199293.2:c.972G>T	NP_954987.2:p.Arg324=
XM_011520335.1:c.903G>T	XP_011518637.1:p.Arg301=
XM_011520335.2:c.903G>T	XP_011518637.1:p.Arg301=
NM_000360.4:c.891G>T MANE Select	NP_000351.2:p.Arg297=
NM_199292.3:c.984G>T	NP_954986.2:p.Arg328=
NM_199293.3:c.972G>T	NP_954987.2:p.Arg324=