Canonical Allele Identifier: CA934419429

Gene: TH

Linked Data

• dbSNP Id: rs1846119513
• gnomAD v3: 11-2167084-A-AGG
• gnomAD v4: 11-2167084-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167084_2167085insGG , CM000673.2:g.2167084_2167085insGG	GRCh38
NC_000011.9:g.2188314_2188315insGG , CM000673.1:g.2188314_2188315insGG	GRCh37
NC_000011.8:g.2144890_2144891insGG	NCBI36
NG_008128.1:g.9721_9722insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-53_696-52insCC MANE Select	ENSP00000325951.4:n.696-53_696-52insCC
ENST00000324155.8:c.*385-53_*385-52insCC	ENSP00000325831.3:n.*385-53_*385-52insCC
ENST00000333684.9:c.695+350_695+351insCC	ENSP00000328814.6:n.695+350_695+351insCC
ENST00000352909.7:c.696-53_696-52insCC	ENSP00000325951.3:n.696-53_696-52insCC
ENST00000381168.7:c.*416-53_*416-52insCC	ENSP00000370560.3:n.*416-53_*416-52insCC
ENST00000381175.5:c.777-53_777-52insCC	ENSP00000370567.1:n.777-53_777-52insCC
ENST00000381178.5:c.789-53_789-52insCC	ENSP00000370571.1:n.789-53_789-52insCC
ENST00000412076.1:c.135+350_135+351insCC
ENST00000416223.5:c.136-317_136-316insCC
ENST00000469226.1:n.825-53_825-52insCC
ENST00000479437.5:n.192_193insCC
NM_000360.3:c.696-53_696-52insCC	NP_000351.2:n.696-53_696-52insCC
NM_199292.2:c.789-53_789-52insCC	NP_954986.2:n.789-53_789-52insCC
NM_199293.2:c.777-53_777-52insCC	NP_954987.2:n.777-53_777-52insCC
XM_011520335.1:c.708-53_708-52insCC	XP_011518637.1:n.708-53_708-52insCC
XM_011520335.2:c.708-53_708-52insCC	XP_011518637.1:n.708-53_708-52insCC
NM_000360.4:c.696-53_696-52insCC MANE Select	NP_000351.2:n.696-53_696-52insCC
NM_199292.3:c.789-53_789-52insCC	NP_954986.2:n.789-53_789-52insCC
NM_199293.3:c.777-53_777-52insCC	NP_954987.2:n.777-53_777-52insCC