Canonical Allele Identifier: CA9080634
Gene: GIPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 504574
ClinVar RCV Id: RCV000607318 RCV002506445
dbSNP Id: rs142749099
ExAC: 19:3590164 C / T
gnomAD v2: 19-3590164-C-T
gnomAD v3: 19-3590166-C-T
gnomAD v4: 19-3590166-C-T
MyVariant Identifiers: chr19:g.3590164C>T (hg19) chr19:g.3590166C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3590166C>T , CM000681.2:g.3590166C>T GRCh38
NC_000019.9:g.3590164C>T , CM000681.1:g.3590164C>T GRCh37
NC_000019.8:g.3541164C>T NCBI36
NG_031943.1:g.9596C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644452.3:c.915C>T MANE Select ENSP00000493901.2:p.Gly305=
ENST00000644946.1:c.928C>T ENSP00000495068.1:p.Arg310Ter
ENST00000322315.5:c.915C>T ENSP00000319254.5:p.Gly305=
NM_133261.2:c.915C>T NP_573568.1:p.Gly305=
XM_005259492.2:c.928C>T XP_005259549.1:p.Arg310Ter
XM_005259492.3:c.928C>T XP_005259549.1:p.Arg310Ter
NM_133261.3:c.915C>T MANE Select NP_573568.1:p.Gly305=
Search 100 bp 5'
Search 100 bp 3'