Canonical Allele Identifier: CA278132

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166995T>G , CM000673.2:g.2166995T>G	GRCh38
NC_000011.9:g.2188225T>G , CM000673.1:g.2188225T>G	GRCh37
NC_000011.8:g.2144801T>G	NCBI36
NG_008128.1:g.9811A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.733A>C MANE Select	NP_000351.2:p.Thr245Pro
ENST00000352909.8:c.733A>C MANE Select	ENSP00000325951.4:p.Thr245Pro
NM_000360.3:c.733A>C	NP_000351.2:p.Thr245Pro
NM_199292.2:c.826A>C	NP_954986.2:p.Thr276Pro
NM_199292.3:c.826A>C	NP_954986.2:p.Thr276Pro
NM_199293.2:c.814A>C	NP_954987.2:p.Thr272Pro
NM_199293.3:c.814A>C	NP_954987.2:p.Thr272Pro
ENST00000324155.8:c.*422A>C	ENSP00000325831.3:n.*422A>C
ENST00000333684.9:c.695+440A>C	ENSP00000328814.6:n.695+440A>C
ENST00000352909.7:c.733A>C	ENSP00000325951.3:p.Thr245Pro
ENST00000381168.7:c.*453A>C	ENSP00000370560.3:n.*453A>C
ENST00000381175.5:c.814A>C	ENSP00000370567.1:p.Thr272Pro
ENST00000381178.5:c.826A>C	ENSP00000370571.1:p.Thr276Pro
ENST00000412076.1:c.135+440A>C
ENST00000416223.5:c.136-227A>C
ENST00000469226.1:n.862A>C
ENST00000479437.5:n.282A>C
XM_011520335.1:c.745A>C	XP_011518637.1:p.Thr249Pro
XM_011520335.2:c.745A>C	XP_011518637.1:p.Thr249Pro