Canonical Allele Identifier: CA950222711

Gene: TMTC3

Linked Data

• dbSNP Id: rs2041406793
• gnomAD v3: 12-88188774-T-C
• gnomAD v4: 12-88188774-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88188774T>C , CM000674.2:g.88188774T>C	GRCh38
NC_000012.11:g.88582551T>C , CM000674.1:g.88582551T>C	GRCh37
NC_000012.10:g.87106682T>C	NCBI36
NG_021187.1:g.51479T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000266712.11:c.1433-69T>C MANE Select	ENSP00000266712.6:n.1433-69T>C
ENST00000266712.10:c.1433-69T>C	ENSP00000266712.6:n.1433-69T>C
ENST00000547034.5:c.*336-69T>C	ENSP00000448733.1:n.*336-69T>C
NM_181783.3:c.1433-69T>C	NP_861448.2:n.1433-69T>C
XM_005268683.3:c.287-69T>C	XP_005268740.1:n.287-69T>C
XM_011537980.1:c.1214-69T>C	XP_011536282.1:n.1214-69T>C
XM_011537981.1:c.200-69T>C	XP_011536283.1:n.200-69T>C
NM_001366574.1:c.1253-69T>C	NP_001353503.1:n.1253-69T>C
NM_001366579.1:c.1214-69T>C	NP_001353508.1:n.1214-69T>C
NM_001366580.1:c.1166-69T>C	NP_001353509.1:n.1166-69T>C
NM_001366583.1:c.740-69T>C	NP_001353512.1:n.740-69T>C
NR_159381.1:n.1766-69T>C
NM_181783.4:c.1433-69T>C MANE Select	NP_861448.2:n.1433-69T>C