Canonical Allele Identifier: CA2575244164
Gene: TMTC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88188785A>G , CM000674.2:g.88188785A>G GRCh38
NC_000012.11:g.88582562A>G , CM000674.1:g.88582562A>G GRCh37
NC_000012.10:g.87106693A>G NCBI36
NG_021187.1:g.51490A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266712.11:c.1433-58A>G MANE Select ENSP00000266712.6:n.1433-58A>G
ENST00000266712.10:c.1433-58A>G ENSP00000266712.6:n.1433-58A>G
ENST00000547034.5:c.*336-58A>G ENSP00000448733.1:n.*336-58A>G
NM_181783.3:c.1433-58A>G NP_861448.2:n.1433-58A>G
XM_005268683.3:c.287-58A>G XP_005268740.1:n.287-58A>G
XM_011537980.1:c.1214-58A>G XP_011536282.1:n.1214-58A>G
XM_011537981.1:c.200-58A>G XP_011536283.1:n.200-58A>G
NM_001366574.1:c.1253-58A>G NP_001353503.1:n.1253-58A>G
NM_001366579.1:c.1214-58A>G NP_001353508.1:n.1214-58A>G
NM_001366580.1:c.1166-58A>G NP_001353509.1:n.1166-58A>G
NM_001366583.1:c.740-58A>G NP_001353512.1:n.740-58A>G
NR_159381.1:n.1766-58A>G
NM_181783.4:c.1433-58A>G MANE Select NP_861448.2:n.1433-58A>G