Canonical Allele Identifier: CA341634518
Gene: TMIGD3 HGNC NCBI
MyVariant.info:
Revel Score:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.111486604C>G , CM000663.2:g.111486604C>G GRCh38
NC_000001.10:g.112029226C>G , CM000663.1:g.112029226C>G GRCh37
NC_000001.9:g.111830749C>G NCBI36
NG_032119.1:g.82372G>C , LRG_424:g.82372G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369716.9:c.854G>C MANE Select ENSP00000358730.4:p.Arg285Pro
ENST00000369716.8:c.854G>C ENSP00000358730.4:p.Arg285Pro
ENST00000369717.8:c.611G>C ENSP00000358731.4:p.Arg204Pro
ENST00000414219.5:c.434G>C ENSP00000415646.2:p.Arg145Pro
ENST00000442484.2:n.433G>C
ENST00000443498.5:c.329G>C ENSP00000398770.1:p.Arg110Pro
ENST00000472933.2:c.197G>C ENSP00000488683.1:p.Arg66Pro
NM_001081976.2:c.611G>C NP_001075445.1:p.Arg204Pro
NM_001302680.1:c.347G>C NP_001289609.1:p.Arg116Pro
NM_020683.6:c.854G>C NP_065734.5:p.Arg285Pro
NM_020683.7:c.854G>C MANE Select NP_065734.5:p.Arg285Pro
NM_001081976.3:c.611G>C NP_001075445.1:p.Arg204Pro
NM_001302680.2:c.347G>C NP_001289609.1:p.Arg116Pro