Canonical Allele Identifier: CA16044173
Gene: TMTC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372275
ClinVar RCV Id: RCV000412615
dbSNP Id: rs1057519417

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88194863_88194864insTT , CM000674.2:g.88194863_88194864insTT GRCh38
NC_000012.11:g.88588640_88588641insTT , CM000674.1:g.88588640_88588641insTT GRCh37
NC_000012.10:g.87112771_87112772insTT NCBI36
NG_021187.1:g.57568_57569insTT

Transcript Alleles

HGVS Amino-acid change
ENST00000266712.11:c.1959_1960insTT MANE Select ENSP00000266712.6:p.Arg654LeufsTer6
ENST00000266712.10:c.1959_1960insTT ENSP00000266712.6:p.Arg654LeufsTer6
NM_181783.3:c.1959_1960insTT NP_861448.2:p.Arg654LeufsTer6
XM_005268683.3:c.813_814insTT XP_005268740.1:p.Arg272LeufsTer6
XM_011537980.1:c.1740_1741insTT XP_011536282.1:p.Arg581LeufsTer6
XM_011537981.1:c.726_727insTT XP_011536283.1:p.Arg243LeufsTer6
NM_001366574.1:c.1779_1780insTT NP_001353503.1:p.Arg594LeufsTer6
NM_001366579.1:c.1740_1741insTT NP_001353508.1:p.Arg581LeufsTer6
NM_001366580.1:c.1692_1693insTT NP_001353509.1:p.Arg565LeufsTer6
NM_001366583.1:c.1266_1267insTT NP_001353512.1:p.Arg423LeufsTer6
NR_159381.1:n.2292_2293insTT
NM_181783.4:c.1959_1960insTT MANE Select NP_861448.2:p.Arg654LeufsTer6