Canonical Allele Identifier: CA379126221

Gene: TH

Linked Data

• dbSNP Id: rs1160259613
• gnomAD v4: 11-2166694-G-A
• MyVariant Identifiers: chr11:g.2187924G>A (hg19) ; chr11:g.2166694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166694G>A , CM000673.2:g.2166694G>A	GRCh38
NC_000011.9:g.2187924G>A , CM000673.1:g.2187924G>A	GRCh37
NC_000011.8:g.2144500G>A	NCBI36
NG_008128.1:g.10112C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.916C>T MANE Select	ENSP00000325951.4:p.Arg306Cys
ENST00000324155.8:c.*605C>T	ENSP00000325831.3:n.*605C>T
ENST00000333684.9:c.696-145C>T	ENSP00000328814.6:n.696-145C>T
ENST00000352909.7:c.916C>T	ENSP00000325951.3:p.Arg306Cys
ENST00000381168.7:c.*636C>T	ENSP00000370560.3:n.*636C>T
ENST00000381175.5:c.997C>T	ENSP00000370567.1:p.Arg333Cys
ENST00000381178.5:c.1009C>T	ENSP00000370571.1:p.Arg337Cys
ENST00000412076.1:c.136-145C>T
ENST00000416223.5:c.210C>T
ENST00000461172.1:n.81C>T
ENST00000479437.5:n.465C>T
NM_000360.3:c.916C>T	NP_000351.2:p.Arg306Cys
NM_199292.2:c.1009C>T	NP_954986.2:p.Arg337Cys
NM_199293.2:c.997C>T	NP_954987.2:p.Arg333Cys
XM_011520335.1:c.928C>T	XP_011518637.1:p.Arg310Cys
XM_011520335.2:c.928C>T	XP_011518637.1:p.Arg310Cys
NM_000360.4:c.916C>T MANE Select	NP_000351.2:p.Arg306Cys
NM_199292.3:c.1009C>T	NP_954986.2:p.Arg337Cys
NM_199293.3:c.997C>T	NP_954987.2:p.Arg333Cys