Canonical Allele Identifier: CA138639
Gene: GIPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 46571
ClinVar RCV Id: RCV000039841 RCV002054773
dbSNP Id: rs8113232
ExAC: 19:3586543 G / A
gnomAD v2: 19-3586543-G-A
gnomAD v3: 19-3586545-G-A
gnomAD v4: 19-3586545-G-A
MyVariant Identifiers: chr19:g.3586543G>A (hg19) chr19:g.3586543_3586560delinsAGGGGGTCAGATAGGCCT (hg19) chr19:g.3586545G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3586545G>A , CM000681.2:g.3586545G>A GRCh38
NC_000019.9:g.3586543G>A , CM000681.1:g.3586543G>A GRCh37
NC_000019.8:g.3537543G>A NCBI36
NG_031943.1:g.5975G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644452.3:c.276G>A MANE Select ENSP00000493901.2:p.Leu92=
ENST00000644946.1:c.276G>A ENSP00000495068.1:p.Leu92=
ENST00000322315.5:c.276G>A ENSP00000319254.5:p.Leu92=
NM_133261.2:c.276G>A NP_573568.1:p.Leu92=
XM_005259492.2:c.276G>A XP_005259549.1:p.Leu92=
XM_005259492.3:c.276G>A XP_005259549.1:p.Leu92=
NM_133261.3:c.276G>A MANE Select NP_573568.1:p.Leu92=
Search 100 bp 5'
Search 100 bp 3'