Canonical Allele Identifier: CA129448
Gene: GIPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 30758
ClinVar RCV Id: RCV000023737
dbSNP Id: rs387907002
MyVariant Identifiers: chr19:g.3586965C>T (hg19) chr19:g.3586967C>T (hg38)
PubMed: PMID:21660509
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3586967C>T , CM000681.2:g.3586967C>T GRCh38
NC_000019.9:g.3586965C>T , CM000681.1:g.3586965C>T GRCh37
NC_000019.8:g.3537965C>T NCBI36
NG_031943.1:g.6397C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644452.3:c.565C>T MANE Select ENSP00000493901.2:p.Arg189Cys
ENST00000644946.1:c.565C>T ENSP00000495068.1:p.Arg189Cys
ENST00000322315.5:c.565C>T ENSP00000319254.5:p.Arg189Cys
NM_133261.2:c.565C>T NP_573568.1:p.Arg189Cys
XM_005259492.2:c.565C>T XP_005259549.1:p.Arg189Cys
XM_005259492.3:c.565C>T XP_005259549.1:p.Arg189Cys
NM_133261.3:c.565C>T MANE Select NP_573568.1:p.Arg189Cys
Search 100 bp 5'
Search 100 bp 3'