Canonical Allele Identifier: CA606605612

Gene: TMTC3

Linked Data

• dbSNP Id: rs1234858258
• gnomAD v2: 12-88582569-T-G
• gnomAD v4: 12-88188792-T-G
• MyVariant Identifiers: chr12:g.88582569T>G (hg19) ; chr12:g.88188792T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88188792T>G , CM000674.2:g.88188792T>G	GRCh38
NC_000012.11:g.88582569T>G , CM000674.1:g.88582569T>G	GRCh37
NC_000012.10:g.87106700T>G	NCBI36
NG_021187.1:g.51497T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000266712.11:c.1433-51T>G MANE Select	ENSP00000266712.6:n.1433-51T>G
ENST00000266712.10:c.1433-51T>G	ENSP00000266712.6:n.1433-51T>G
ENST00000547034.5:c.*336-51T>G	ENSP00000448733.1:n.*336-51T>G
NM_181783.3:c.1433-51T>G	NP_861448.2:n.1433-51T>G
XM_005268683.3:c.287-51T>G	XP_005268740.1:n.287-51T>G
XM_011537980.1:c.1214-51T>G	XP_011536282.1:n.1214-51T>G
XM_011537981.1:c.200-51T>G	XP_011536283.1:n.200-51T>G
NM_001366574.1:c.1253-51T>G	NP_001353503.1:n.1253-51T>G
NM_001366579.1:c.1214-51T>G	NP_001353508.1:n.1214-51T>G
NM_001366580.1:c.1166-51T>G	NP_001353509.1:n.1166-51T>G
NM_001366583.1:c.740-51T>G	NP_001353512.1:n.740-51T>G
NR_159381.1:n.1766-51T>G
NM_181783.4:c.1433-51T>G MANE Select	NP_861448.2:n.1433-51T>G