Canonical Allele Identifier: CA379127100

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188246T>G (hg19) ; chr11:g.2167016T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167016T>G , CM000673.2:g.2167016T>G	GRCh38
NC_000011.9:g.2188246T>G , CM000673.1:g.2188246T>G	GRCh37
NC_000011.8:g.2144822T>G	NCBI36
NG_008128.1:g.9790A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.712A>C MANE Select	ENSP00000325951.4:p.Thr238Pro
ENST00000324155.8:c.*401A>C	ENSP00000325831.3:n.*401A>C
ENST00000333684.9:c.695+419A>C	ENSP00000328814.6:n.695+419A>C
ENST00000352909.7:c.712A>C	ENSP00000325951.3:p.Thr238Pro
ENST00000381168.7:c.*432A>C	ENSP00000370560.3:n.*432A>C
ENST00000381175.5:c.793A>C	ENSP00000370567.1:p.Thr265Pro
ENST00000381178.5:c.805A>C	ENSP00000370571.1:p.Thr269Pro
ENST00000412076.1:c.135+419A>C
ENST00000416223.5:c.136-248A>C
ENST00000469226.1:n.841A>C
ENST00000479437.5:n.261A>C
NM_000360.3:c.712A>C	NP_000351.2:p.Thr238Pro
NM_199292.2:c.805A>C	NP_954986.2:p.Thr269Pro
NM_199293.2:c.793A>C	NP_954987.2:p.Thr265Pro
XM_011520335.1:c.724A>C	XP_011518637.1:p.Thr242Pro
XM_011520335.2:c.724A>C	XP_011518637.1:p.Thr242Pro
NM_000360.4:c.712A>C MANE Select	NP_000351.2:p.Thr238Pro
NM_199292.3:c.805A>C	NP_954986.2:p.Thr269Pro
NM_199293.3:c.793A>C	NP_954987.2:p.Thr265Pro