Canonical Allele Identifier: CA379126239

Gene: TH

Linked Data

• dbSNP Id: rs2133692836
• gnomAD v3: 11-2166702-A-G
• gnomAD v4: 11-2166702-A-G
• MyVariant Identifiers: chr11:g.2187932A>G (hg19) ; chr11:g.2166702A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166702A>G , CM000673.2:g.2166702A>G	GRCh38
NC_000011.9:g.2187932A>G , CM000673.1:g.2187932A>G	GRCh37
NC_000011.8:g.2144508A>G	NCBI36
NG_008128.1:g.10104T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.908T>C MANE Select	ENSP00000325951.4:p.Leu303Pro
ENST00000324155.8:c.*597T>C	ENSP00000325831.3:n.*597T>C
ENST00000333684.9:c.696-153T>C	ENSP00000328814.6:n.696-153T>C
ENST00000352909.7:c.908T>C	ENSP00000325951.3:p.Leu303Pro
ENST00000381168.7:c.*628T>C	ENSP00000370560.3:n.*628T>C
ENST00000381175.5:c.989T>C	ENSP00000370567.1:p.Leu330Pro
ENST00000381178.5:c.1001T>C	ENSP00000370571.1:p.Leu334Pro
ENST00000412076.1:c.136-153T>C
ENST00000416223.5:c.202T>C
ENST00000461172.1:n.73T>C
ENST00000479437.5:n.457T>C
NM_000360.3:c.908T>C	NP_000351.2:p.Leu303Pro
NM_199292.2:c.1001T>C	NP_954986.2:p.Leu334Pro
NM_199293.2:c.989T>C	NP_954987.2:p.Leu330Pro
XM_011520335.1:c.920T>C	XP_011518637.1:p.Leu307Pro
XM_011520335.2:c.920T>C	XP_011518637.1:p.Leu307Pro
NM_000360.4:c.908T>C MANE Select	NP_000351.2:p.Leu303Pro
NM_199292.3:c.1001T>C	NP_954986.2:p.Leu334Pro
NM_199293.3:c.989T>C	NP_954987.2:p.Leu330Pro