Canonical Allele Identifier: CA9080324
Gene: GIPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 262317
ClinVar RCV Id: RCV000246163 RCV002500932 RCV003422181
dbSNP Id: rs754337950
ExAC: 19:3585652 G / T
gnomAD v2: 19-3585652-G-T
gnomAD v3: 19-3585654-G-T
gnomAD v4: 19-3585654-G-T
MyVariant Identifiers: chr19:g.3585652G>T (hg19) chr19:g.3585654G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3585654G>T , CM000681.2:g.3585654G>T GRCh38
NC_000019.9:g.3585652G>T , CM000681.1:g.3585652G>T GRCh37
NC_000019.8:g.3536652G>T NCBI36
NG_031943.1:g.5084G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644452.3:c.57G>T MANE Select ENSP00000493901.2:p.Ala19=
ENST00000644946.1:c.57G>T ENSP00000495068.1:p.Ala19=
ENST00000322315.5:c.57G>T ENSP00000319254.5:p.Ala19=
NM_133261.2:c.57G>T NP_573568.1:p.Ala19=
XM_005259492.2:c.57G>T XP_005259549.1:p.Ala19=
XM_005259492.3:c.57G>T XP_005259549.1:p.Ala19=
NM_133261.3:c.57G>T MANE Select NP_573568.1:p.Ala19=
Search 100 bp 5'
Search 100 bp 3'