Canonical Allele Identifier: CA379124525

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2164349C>A , CM000673.2:g.2164349C>A	GRCh38
NC_000011.9:g.2185579C>A , CM000673.1:g.2185579C>A	GRCh37
NC_000011.8:g.2142155C>A	NCBI36
NG_007114.1:g.1846G>T
NG_008128.1:g.12457G>T
NG_050578.1:g.1861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1378G>T MANE Select	ENSP00000325951.4:p.Asp460Tyr
ENST00000333684.9:c.1096G>T	ENSP00000328814.6:p.Asp366Tyr
ENST00000352909.7:c.1378G>T	ENSP00000325951.3:p.Asp460Tyr
ENST00000381175.5:c.1459G>T	ENSP00000370567.1:p.Asp487Tyr
ENST00000381178.5:c.1471G>T	ENSP00000370571.1:p.Asp491Tyr
NM_000360.3:c.1378G>T	NP_000351.2:p.Asp460Tyr
NM_199292.2:c.1471G>T	NP_954986.2:p.Asp491Tyr
NM_199293.2:c.1459G>T	NP_954987.2:p.Asp487Tyr
XM_011520335.1:c.1390G>T	XP_011518637.1:p.Asp464Tyr
XM_011520335.2:c.1390G>T	XP_011518637.1:p.Asp464Tyr
NM_000360.4:c.1378G>T MANE Select	NP_000351.2:p.Asp460Tyr
NM_199292.3:c.1471G>T	NP_954986.2:p.Asp491Tyr
NM_199293.3:c.1459G>T	NP_954987.2:p.Asp487Tyr