Canonical Allele Identifier: CA5818493

Gene: TH

Linked Data

• dbSNP Id: rs376462928
• ExAC: 11:2188180 G / A
• gnomAD v2: 11-2188180-G-A
• gnomAD v3: 11-2166950-G-A
• gnomAD v4: 11-2166950-G-A
• MyVariant Identifiers: chr11:g.2188180G>A (hg19) ; chr11:g.2166950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166950G>A , CM000673.2:g.2166950G>A	GRCh38
NC_000011.9:g.2188180G>A , CM000673.1:g.2188180G>A	GRCh37
NC_000011.8:g.2144756G>A	NCBI36
NG_008128.1:g.9856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.778C>T MANE Select	ENSP00000325951.4:p.Arg260Cys
ENST00000324155.8:c.*467C>T	ENSP00000325831.3:n.*467C>T
ENST00000333684.9:c.696-401C>T	ENSP00000328814.6:n.696-401C>T
ENST00000352909.7:c.778C>T	ENSP00000325951.3:p.Arg260Cys
ENST00000381168.7:c.*498C>T	ENSP00000370560.3:n.*498C>T
ENST00000381175.5:c.859C>T	ENSP00000370567.1:p.Arg287Cys
ENST00000381178.5:c.871C>T	ENSP00000370571.1:p.Arg291Cys
ENST00000412076.1:c.136-401C>T
ENST00000416223.5:c.136-182C>T
ENST00000469226.1:n.907C>T
ENST00000479437.5:n.327C>T
NM_000360.3:c.778C>T	NP_000351.2:p.Arg260Cys
NM_199292.2:c.871C>T	NP_954986.2:p.Arg291Cys
NM_199293.2:c.859C>T	NP_954987.2:p.Arg287Cys
XM_011520335.1:c.790C>T	XP_011518637.1:p.Arg264Cys
XM_011520335.2:c.790C>T	XP_011518637.1:p.Arg264Cys
NM_000360.4:c.778C>T MANE Select	NP_000351.2:p.Arg260Cys
NM_199292.3:c.871C>T	NP_954986.2:p.Arg291Cys
NM_199293.3:c.859C>T	NP_954987.2:p.Arg287Cys