Canonical Allele Identifier: CA472034668

Gene: TH

Linked Data

• ClinVar Variation Id: 756976
• ClinVar RCV Id: RCV001399314
• dbSNP Id: rs1590166863
• gnomAD v4: 11-2166498-G-A
• MyVariant Identifiers: chr11:g.2187728G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166498G>A , CM000673.2:g.2166498G>A	GRCh38
NC_000011.9:g.2187728G>A , CM000673.1:g.2187728G>A	GRCh37
NC_000011.8:g.2144304G>A	NCBI36
NG_008128.1:g.10308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1029C>T MANE Select	ENSP00000325951.4:p.Thr343=
ENST00000324155.8:c.*718C>T	ENSP00000325831.3:n.*718C>T
ENST00000333684.9:c.747C>T	ENSP00000328814.6:p.Thr249=
ENST00000352909.7:c.1029C>T	ENSP00000325951.3:p.Thr343=
ENST00000381168.7:c.*749C>T	ENSP00000370560.3:n.*749C>T
ENST00000381175.5:c.1110C>T	ENSP00000370567.1:p.Thr370=
ENST00000381178.5:c.1122C>T	ENSP00000370571.1:p.Thr374=
ENST00000412076.1:c.187C>T
ENST00000416223.5:c.323C>T
ENST00000461172.1:n.194C>T
ENST00000479437.5:n.578C>T
NM_000360.3:c.1029C>T	NP_000351.2:p.Thr343=
NM_199292.2:c.1122C>T	NP_954986.2:p.Thr374=
NM_199293.2:c.1110C>T	NP_954987.2:p.Thr370=
XM_011520335.1:c.1041C>T	XP_011518637.1:p.Thr347=
XM_011520335.2:c.1041C>T	XP_011518637.1:p.Thr347=
NM_000360.4:c.1029C>T MANE Select	NP_000351.2:p.Thr343=
NM_199292.3:c.1122C>T	NP_954986.2:p.Thr374=
NM_199293.3:c.1110C>T	NP_954987.2:p.Thr370=