Canonical Allele Identifier: CA472413988

Gene: TH

Linked Data

• ClinVar Variation Id: 1080465
• ClinVar RCV Id: RCV001396081
• dbSNP Id: rs2133692653
• MyVariant Identifiers: chr11:g.2187871G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166641G>A , CM000673.2:g.2166641G>A	GRCh38
NC_000011.9:g.2187871G>A , CM000673.1:g.2187871G>A	GRCh37
NC_000011.8:g.2144447G>A	NCBI36
NG_008128.1:g.10165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.969C>T MANE Select	ENSP00000325951.4:p.Ser323=
ENST00000324155.8:c.*658C>T	ENSP00000325831.3:n.*658C>T
ENST00000333684.9:c.696-92C>T	ENSP00000328814.6:n.696-92C>T
ENST00000352909.7:c.969C>T	ENSP00000325951.3:p.Ser323=
ENST00000381168.7:c.*689C>T	ENSP00000370560.3:n.*689C>T
ENST00000381175.5:c.1050C>T	ENSP00000370567.1:p.Ser350=
ENST00000381178.5:c.1062C>T	ENSP00000370571.1:p.Ser354=
ENST00000412076.1:c.136-92C>T
ENST00000416223.5:c.263C>T
ENST00000461172.1:n.134C>T
ENST00000479437.5:n.518C>T
NM_000360.3:c.969C>T	NP_000351.2:p.Ser323=
NM_199292.2:c.1062C>T	NP_954986.2:p.Ser354=
NM_199293.2:c.1050C>T	NP_954987.2:p.Ser350=
XM_011520335.1:c.981C>T	XP_011518637.1:p.Ser327=
XM_011520335.2:c.981C>T	XP_011518637.1:p.Ser327=
NM_000360.4:c.969C>T MANE Select	NP_000351.2:p.Ser323=
NM_199292.3:c.1062C>T	NP_954986.2:p.Ser354=
NM_199293.3:c.1050C>T	NP_954987.2:p.Ser350=