Canonical Allele Identifier: CA2575244167

Gene: TMTC3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88188796T>G , CM000674.2:g.88188796T>G	GRCh38
NC_000012.11:g.88582573T>G , CM000674.1:g.88582573T>G	GRCh37
NC_000012.10:g.87106704T>G	NCBI36
NG_021187.1:g.51501T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000266712.11:c.1433-47T>G MANE Select	ENSP00000266712.6:n.1433-47T>G
ENST00000266712.10:c.1433-47T>G	ENSP00000266712.6:n.1433-47T>G
ENST00000547034.5:c.*336-47T>G	ENSP00000448733.1:n.*336-47T>G
NM_181783.3:c.1433-47T>G	NP_861448.2:n.1433-47T>G
XM_005268683.3:c.287-47T>G	XP_005268740.1:n.287-47T>G
XM_011537980.1:c.1214-47T>G	XP_011536282.1:n.1214-47T>G
XM_011537981.1:c.200-47T>G	XP_011536283.1:n.200-47T>G
NM_001366574.1:c.1253-47T>G	NP_001353503.1:n.1253-47T>G
NM_001366579.1:c.1214-47T>G	NP_001353508.1:n.1214-47T>G
NM_001366580.1:c.1166-47T>G	NP_001353509.1:n.1166-47T>G
NM_001366583.1:c.740-47T>G	NP_001353512.1:n.740-47T>G
NR_159381.1:n.1766-47T>G
NM_181783.4:c.1433-47T>G MANE Select	NP_861448.2:n.1433-47T>G