Canonical Allele Identifier: CA472414299

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187994G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166764G>T , CM000673.2:g.2166764G>T	GRCh38
NC_000011.9:g.2187994G>T , CM000673.1:g.2187994G>T	GRCh37
NC_000011.8:g.2144570G>T	NCBI36
NG_008128.1:g.10042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.846C>A MANE Select	ENSP00000325951.4:p.Arg282=
ENST00000324155.8:c.*535C>A	ENSP00000325831.3:n.*535C>A
ENST00000333684.9:c.696-215C>A	ENSP00000328814.6:n.696-215C>A
ENST00000352909.7:c.846C>A	ENSP00000325951.3:p.Arg282=
ENST00000381168.7:c.*566C>A	ENSP00000370560.3:n.*566C>A
ENST00000381175.5:c.927C>A	ENSP00000370567.1:p.Arg309=
ENST00000381178.5:c.939C>A	ENSP00000370571.1:p.Arg313=
ENST00000412076.1:c.136-215C>A
ENST00000416223.5:c.140C>A
ENST00000461172.1:n.11C>A
ENST00000479437.5:n.395C>A
NM_000360.3:c.846C>A	NP_000351.2:p.Arg282=
NM_199292.2:c.939C>A	NP_954986.2:p.Arg313=
NM_199293.2:c.927C>A	NP_954987.2:p.Arg309=
XM_011520335.1:c.858C>A	XP_011518637.1:p.Arg286=
XM_011520335.2:c.858C>A	XP_011518637.1:p.Arg286=
NM_000360.4:c.846C>A MANE Select	NP_000351.2:p.Arg282=
NM_199292.3:c.939C>A	NP_954986.2:p.Arg313=
NM_199293.3:c.927C>A	NP_954987.2:p.Arg309=