Canonical Allele Identifier: CA6713291

Gene: TMTC3

Linked Data

• dbSNP Id: rs370693191
• ExAC: 12:88582580 G / C
• gnomAD v2: 12-88582580-G-C
• gnomAD v4: 12-88188803-G-C
• MyVariant Identifiers: chr12:g.88582580G>C (hg19) ; chr12:g.88188803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88188803G>C , CM000674.2:g.88188803G>C	GRCh38
NC_000012.11:g.88582580G>C , CM000674.1:g.88582580G>C	GRCh37
NC_000012.10:g.87106711G>C	NCBI36
NG_021187.1:g.51508G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000266712.11:c.1433-40G>C MANE Select	ENSP00000266712.6:n.1433-40G>C
ENST00000266712.10:c.1433-40G>C	ENSP00000266712.6:n.1433-40G>C
ENST00000547034.5:c.*336-40G>C	ENSP00000448733.1:n.*336-40G>C
NM_181783.3:c.1433-40G>C	NP_861448.2:n.1433-40G>C
XM_005268683.3:c.287-40G>C	XP_005268740.1:n.287-40G>C
XM_011537980.1:c.1214-40G>C	XP_011536282.1:n.1214-40G>C
XM_011537981.1:c.200-40G>C	XP_011536283.1:n.200-40G>C
NM_001366574.1:c.1253-40G>C	NP_001353503.1:n.1253-40G>C
NM_001366579.1:c.1214-40G>C	NP_001353508.1:n.1214-40G>C
NM_001366580.1:c.1166-40G>C	NP_001353509.1:n.1166-40G>C
NM_001366583.1:c.740-40G>C	NP_001353512.1:n.740-40G>C
NR_159381.1:n.1766-40G>C
NM_181783.4:c.1433-40G>C MANE Select	NP_861448.2:n.1433-40G>C