Canonical Allele Identifier: CA2535944891
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166622_2166623insT , CM000673.2:g.2166622_2166623insT GRCh38
NC_000011.9:g.2187852_2187853insT , CM000673.1:g.2187852_2187853insT GRCh37
NC_000011.8:g.2144428_2144429insT NCBI36
NG_008128.1:g.10183_10184insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.977+10_977+11insA MANE Select ENSP00000325951.4:n.977+10_977+11insA
ENST00000324155.8:c.*666+10_*666+11insA ENSP00000325831.3:n.*666+10_*666+11insA
ENST00000333684.9:c.696-74_696-73insA ENSP00000328814.6:n.696-74_696-73insA
ENST00000352909.7:c.977+10_977+11insA ENSP00000325951.3:n.977+10_977+11insA
ENST00000381168.7:c.*697+10_*697+11insA ENSP00000370560.3:n.*697+10_*697+11insA
ENST00000381175.5:c.1058+10_1058+11insA ENSP00000370567.1:n.1058+10_1058+11insA
ENST00000381178.5:c.1070+10_1070+11insA ENSP00000370571.1:n.1070+10_1070+11insA
ENST00000412076.1:c.136-74_136-73insA
ENST00000416223.5:c.271+10_271+11insA
ENST00000461172.1:n.142+10_142+11insA
ENST00000479437.5:n.526+10_526+11insA
NM_000360.3:c.977+10_977+11insA NP_000351.2:n.977+10_977+11insA
NM_199292.2:c.1070+10_1070+11insA NP_954986.2:n.1070+10_1070+11insA
NM_199293.2:c.1058+10_1058+11insA NP_954987.2:n.1058+10_1058+11insA
XM_011520335.1:c.989+10_989+11insA XP_011518637.1:n.989+10_989+11insA
XM_011520335.2:c.989+10_989+11insA XP_011518637.1:n.989+10_989+11insA
NM_000360.4:c.977+10_977+11insA MANE Select NP_000351.2:n.977+10_977+11insA
NM_199292.3:c.1070+10_1070+11insA NP_954986.2:n.1070+10_1070+11insA
NM_199293.3:c.1058+10_1058+11insA NP_954987.2:n.1058+10_1058+11insA