Canonical Allele Identifier: CA915948011

Gene: TH

Linked Data

• ClinVar Variation Id: 639906
• ClinVar RCV Id: RCV001004555
• dbSNP Id: rs1590166832

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166486_2166496del , CM000673.2:g.2166486_2166496del	GRCh38
NC_000011.9:g.2187716_2187726del , CM000673.1:g.2187716_2187726del	GRCh37
NC_000011.8:g.2144292_2144302del	NCBI36
NG_008128.1:g.10314_10324del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1035_1045del MANE Select	ENSP00000325951.4:p.Gln346GlyfsTer12
ENST00000324155.8:c.*724_*734del	ENSP00000325831.3:n.*724_*734del
ENST00000333684.9:c.753_763del	ENSP00000328814.6:p.Gln252GlyfsTer12
ENST00000352909.7:c.1035_1045del	ENSP00000325951.3:p.Gln346GlyfsTer12
ENST00000381168.7:c.*755_*765del	ENSP00000370560.3:n.*755_*765del
ENST00000381175.5:c.1116_1126del	ENSP00000370567.1:p.Gln373GlyfsTer12
ENST00000381178.5:c.1128_1138del	ENSP00000370571.1:p.Gln377GlyfsTer12
ENST00000412076.1:c.193_203del
ENST00000416223.5:c.329_339del
ENST00000461172.1:n.200_210del
ENST00000479437.5:n.584_594del
NM_000360.3:c.1035_1045del	NP_000351.2:p.Gln346GlyfsTer12
NM_199292.2:c.1128_1138del	NP_954986.2:p.Gln377GlyfsTer12
NM_199293.2:c.1116_1126del	NP_954987.2:p.Gln373GlyfsTer12
XM_011520335.1:c.1047_1057del	XP_011518637.1:p.Gln350GlyfsTer12
XM_011520335.2:c.1047_1057del	XP_011518637.1:p.Gln350GlyfsTer12
NM_000360.4:c.1035_1045del MANE Select	NP_000351.2:p.Gln346GlyfsTer12
NM_199292.3:c.1128_1138del	NP_954986.2:p.Gln377GlyfsTer12
NM_199293.3:c.1116_1126del	NP_954987.2:p.Gln373GlyfsTer12