Canonical Allele Identifier: CA176147
Gene: GIPC3 HGNC NCBI
ClinVar Variation:
COSMIC:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3586842G>A , CM000681.2:g.3586842G>A GRCh38
NC_000019.9:g.3586840G>A , CM000681.1:g.3586840G>A GRCh37
NC_000019.8:g.3537840G>A NCBI36
NG_031943.1:g.6272G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644452.3:c.440G>A MANE Select ENSP00000493901.2:p.Arg147Gln
ENST00000644946.1:c.440G>A ENSP00000495068.1:p.Arg147Gln
ENST00000322315.5:c.440G>A ENSP00000319254.5:p.Arg147Gln
NM_133261.2:c.440G>A NP_573568.1:p.Arg147Gln
XM_005259492.2:c.440G>A XP_005259549.1:p.Arg147Gln
XM_005259492.3:c.440G>A XP_005259549.1:p.Arg147Gln
NM_133261.3:c.440G>A MANE Select NP_573568.1:p.Arg147Gln