Canonical Allele Identifier: CA472414368

Gene: TH

Linked Data

• ClinVar Variation Id: 1096451
• ClinVar RCV Id: RCV001417695
• dbSNP Id: rs1846114858
• gnomAD v4: 11-2166996-G-A
• MyVariant Identifiers: chr11:g.2188226G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166996G>A , CM000673.2:g.2166996G>A	GRCh38
NC_000011.9:g.2188226G>A , CM000673.1:g.2188226G>A	GRCh37
NC_000011.8:g.2144802G>A	NCBI36
NG_008128.1:g.9810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.732C>T MANE Select	ENSP00000325951.4:p.Ala244=
ENST00000324155.8:c.*421C>T	ENSP00000325831.3:n.*421C>T
ENST00000333684.9:c.695+439C>T	ENSP00000328814.6:n.695+439C>T
ENST00000352909.7:c.732C>T	ENSP00000325951.3:p.Ala244=
ENST00000381168.7:c.*452C>T	ENSP00000370560.3:n.*452C>T
ENST00000381175.5:c.813C>T	ENSP00000370567.1:p.Ala271=
ENST00000381178.5:c.825C>T	ENSP00000370571.1:p.Ala275=
ENST00000412076.1:c.135+439C>T
ENST00000416223.5:c.136-228C>T
ENST00000469226.1:n.861C>T
ENST00000479437.5:n.281C>T
NM_000360.3:c.732C>T	NP_000351.2:p.Ala244=
NM_199292.2:c.825C>T	NP_954986.2:p.Ala275=
NM_199293.2:c.813C>T	NP_954987.2:p.Ala271=
XM_011520335.1:c.744C>T	XP_011518637.1:p.Ala248=
XM_011520335.2:c.744C>T	XP_011518637.1:p.Ala248=
NM_000360.4:c.732C>T MANE Select	NP_000351.2:p.Ala244=
NM_199292.3:c.825C>T	NP_954986.2:p.Ala275=
NM_199293.3:c.813C>T	NP_954987.2:p.Ala271=