Canonical Allele Identifier: CA379127030

Gene: TH

Linked Data

• dbSNP Id: rs1846115569
• MyVariant Identifiers: chr11:g.2188233A>G (hg19) ; chr11:g.2167003A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167003A>G , CM000673.2:g.2167003A>G	GRCh38
NC_000011.9:g.2188233A>G , CM000673.1:g.2188233A>G	GRCh37
NC_000011.8:g.2144809A>G	NCBI36
NG_008128.1:g.9803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.725T>C MANE Select	ENSP00000325951.4:p.Leu242Pro
ENST00000324155.8:c.*414T>C	ENSP00000325831.3:n.*414T>C
ENST00000333684.9:c.695+432T>C	ENSP00000328814.6:n.695+432T>C
ENST00000352909.7:c.725T>C	ENSP00000325951.3:p.Leu242Pro
ENST00000381168.7:c.*445T>C	ENSP00000370560.3:n.*445T>C
ENST00000381175.5:c.806T>C	ENSP00000370567.1:p.Leu269Pro
ENST00000381178.5:c.818T>C	ENSP00000370571.1:p.Leu273Pro
ENST00000412076.1:c.135+432T>C
ENST00000416223.5:c.136-235T>C
ENST00000469226.1:n.854T>C
ENST00000479437.5:n.274T>C
NM_000360.3:c.725T>C	NP_000351.2:p.Leu242Pro
NM_199292.2:c.818T>C	NP_954986.2:p.Leu273Pro
NM_199293.2:c.806T>C	NP_954987.2:p.Leu269Pro
XM_011520335.1:c.737T>C	XP_011518637.1:p.Leu246Pro
XM_011520335.2:c.737T>C	XP_011518637.1:p.Leu246Pro
NM_000360.4:c.725T>C MANE Select	NP_000351.2:p.Leu242Pro
NM_199292.3:c.818T>C	NP_954986.2:p.Leu273Pro
NM_199293.3:c.806T>C	NP_954987.2:p.Leu269Pro