Canonical Allele Identifier: CA5818582

Gene: TH

Linked Data

• dbSNP Id: rs544661832
• ExAC: 11:2189146 C / T
• gnomAD v2: 11-2189146-C-T
• gnomAD v4: 11-2167916-C-T
• MyVariant Identifiers: chr11:g.2189146C>T (hg19) ; chr11:g.2167916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167916C>T , CM000673.2:g.2167916C>T	GRCh38
NC_000011.9:g.2189146C>T , CM000673.1:g.2189146C>T	GRCh37
NC_000011.8:g.2145722C>T	NCBI36
NG_008128.1:g.8890G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.594G>A MANE Select	ENSP00000325951.4:p.Val198=
ENST00000324155.8:c.*283G>A	ENSP00000325831.3:n.*283G>A
ENST00000333684.9:c.594G>A	ENSP00000328814.6:p.Val198=
ENST00000352909.7:c.594G>A	ENSP00000325951.3:p.Val198=
ENST00000381168.7:c.*283G>A	ENSP00000370560.3:n.*283G>A
ENST00000381175.5:c.675G>A	ENSP00000370567.1:p.Val225=
ENST00000381178.5:c.687G>A	ENSP00000370571.1:p.Val229=
ENST00000412076.1:c.34G>A
ENST00000416223.5:c.34G>A
ENST00000469226.1:n.343G>A
NM_000360.3:c.594G>A	NP_000351.2:p.Val198=
NM_199292.2:c.687G>A	NP_954986.2:p.Val229=
NM_199293.2:c.675G>A	NP_954987.2:p.Val225=
XM_011520335.1:c.606G>A	XP_011518637.1:p.Val202=
XM_011520335.2:c.606G>A	XP_011518637.1:p.Val202=
NM_000360.4:c.594G>A MANE Select	NP_000351.2:p.Val198=
NM_199292.3:c.687G>A	NP_954986.2:p.Val229=
NM_199293.3:c.675G>A	NP_954987.2:p.Val225=