Canonical Allele Identifier: CA2790191063

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166785G>T , CM000673.2:g.2166785G>T	GRCh38
NC_000011.9:g.2188015G>T , CM000673.1:g.2188015G>T	GRCh37
NC_000011.8:g.2144591G>T	NCBI36
NG_008128.1:g.10021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.842-17C>A MANE Select	ENSP00000325951.4:n.842-17C>A
ENST00000324155.8:c.*531-17C>A	ENSP00000325831.3:n.*531-17C>A
ENST00000333684.9:c.696-236C>A	ENSP00000328814.6:n.696-236C>A
ENST00000352909.7:c.842-17C>A	ENSP00000325951.3:n.842-17C>A
ENST00000381168.7:c.*562-17C>A	ENSP00000370560.3:n.*562-17C>A
ENST00000381175.5:c.923-17C>A	ENSP00000370567.1:n.923-17C>A
ENST00000381178.5:c.935-17C>A	ENSP00000370571.1:n.935-17C>A
ENST00000412076.1:c.136-236C>A
ENST00000416223.5:c.136-17C>A
ENST00000479437.5:n.391-17C>A
NM_000360.3:c.842-17C>A	NP_000351.2:n.842-17C>A
NM_199292.2:c.935-17C>A	NP_954986.2:n.935-17C>A
NM_199293.2:c.923-17C>A	NP_954987.2:n.923-17C>A
XM_011520335.1:c.854-17C>A	XP_011518637.1:n.854-17C>A
XM_011520335.2:c.854-17C>A	XP_011518637.1:n.854-17C>A
NM_000360.4:c.842-17C>A MANE Select	NP_000351.2:n.842-17C>A
NM_199292.3:c.935-17C>A	NP_954986.2:n.935-17C>A
NM_199293.3:c.923-17C>A	NP_954987.2:n.923-17C>A