Canonical Allele Identifier: CA379126157

Gene: TH

Linked Data

• dbSNP Id: rs1451623991
• gnomAD v2: 11-2187896-C-G
• gnomAD v4: 11-2166666-C-G
• MyVariant Identifiers: chr11:g.2187896C>G (hg19) ; chr11:g.2166666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166666C>G , CM000673.2:g.2166666C>G	GRCh38
NC_000011.9:g.2187896C>G , CM000673.1:g.2187896C>G	GRCh37
NC_000011.8:g.2144472C>G	NCBI36
NG_008128.1:g.10140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.944G>C MANE Select	ENSP00000325951.4:p.Arg315Pro
ENST00000324155.8:c.*633G>C	ENSP00000325831.3:n.*633G>C
ENST00000333684.9:c.696-117G>C	ENSP00000328814.6:n.696-117G>C
ENST00000352909.7:c.944G>C	ENSP00000325951.3:p.Arg315Pro
ENST00000381168.7:c.*664G>C	ENSP00000370560.3:n.*664G>C
ENST00000381175.5:c.1025G>C	ENSP00000370567.1:p.Arg342Pro
ENST00000381178.5:c.1037G>C	ENSP00000370571.1:p.Arg346Pro
ENST00000412076.1:c.136-117G>C
ENST00000416223.5:c.238G>C
ENST00000461172.1:n.109G>C
ENST00000479437.5:n.493G>C
NM_000360.3:c.944G>C	NP_000351.2:p.Arg315Pro
NM_199292.2:c.1037G>C	NP_954986.2:p.Arg346Pro
NM_199293.2:c.1025G>C	NP_954987.2:p.Arg342Pro
XM_011520335.1:c.956G>C	XP_011518637.1:p.Arg319Pro
XM_011520335.2:c.956G>C	XP_011518637.1:p.Arg319Pro
NM_000360.4:c.944G>C MANE Select	NP_000351.2:p.Arg315Pro
NM_199292.3:c.1037G>C	NP_954986.2:p.Arg346Pro
NM_199293.3:c.1025G>C	NP_954987.2:p.Arg342Pro