Canonical Allele Identifier: CA1948005134

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166536_2166537delinsCG , CM000673.2:g.2166536_2166537delinsCG	GRCh38
NC_000011.9:g.2187766_2187767delinsCG , CM000673.1:g.2187766_2187767delinsCG	GRCh37
NC_000011.8:g.2144342_2144343delinsCG	NCBI36
NG_008128.1:g.10269_10270delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.990_991delinsCG MANE Select	ENSP00000325951.4:p.His330=
ENST00000324155.8:c.*679_*680delinsCG	ENSP00000325831.3:n.*679_*680delinsCG
ENST00000333684.9:c.708_709delinsCG	ENSP00000328814.6:p.His236=
ENST00000352909.7:c.990_991delinsCG	ENSP00000325951.3:p.His330=
ENST00000381168.7:c.*710_*711delinsCG	ENSP00000370560.3:n.*710_*711delinsCG
ENST00000381175.5:c.1071_1072delinsCG	ENSP00000370567.1:p.His357=
ENST00000381178.5:c.1083_1084delinsCG	ENSP00000370571.1:p.His361=
ENST00000412076.1:c.148_149delinsCG
ENST00000416223.5:c.284_285delinsCG
ENST00000461172.1:n.155_156delinsCG
ENST00000479437.5:n.539_540delinsCG
NM_000360.3:c.990_991delinsCG	NP_000351.2:p.His330=
NM_199292.2:c.1083_1084delinsCG	NP_954986.2:p.His361=
NM_199293.2:c.1071_1072delinsCG	NP_954987.2:p.His357=
XM_011520335.1:c.1002_1003delinsCG	XP_011518637.1:p.His334=
XM_011520335.2:c.1002_1003delinsCG	XP_011518637.1:p.His334=
NM_000360.4:c.990_991delinsCG MANE Select	NP_000351.2:p.His330=
NM_199292.3:c.1083_1084delinsCG	NP_954986.2:p.His361=
NM_199293.3:c.1071_1072delinsCG	NP_954987.2:p.His357=