Canonical Allele Identifier: CA10577097

Gene: GIPC3

Linked Data

• ClinVar Variation Id: 227379
• ClinVar RCV Id: RCV000220299 ; RCV001853409
• dbSNP Id: rs876657467
• gnomAD v2: 19-3585808-C-A
• gnomAD v3: 19-3585810-C-A
• gnomAD v4: 19-3585810-C-A
• MyVariant Identifiers: chr19:g.3585808C>A (hg19) ; chr19:g.3585810C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3585810C>A , CM000681.2:g.3585810C>A	GRCh38
NC_000019.9:g.3585808C>A , CM000681.1:g.3585808C>A	GRCh37
NC_000019.8:g.3536808C>A	NCBI36
NG_031943.1:g.5240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644452.3:c.213C>A MANE Select	ENSP00000493901.2:p.Ile71=
ENST00000644946.1:c.213C>A	ENSP00000495068.1:p.Ile71=
ENST00000322315.5:c.213C>A	ENSP00000319254.5:p.Ile71=
NM_133261.2:c.213C>A	NP_573568.1:p.Ile71=
XM_005259492.2:c.213C>A	XP_005259549.1:p.Ile71=
XM_005259492.3:c.213C>A	XP_005259549.1:p.Ile71=
NM_133261.3:c.213C>A MANE Select	NP_573568.1:p.Ile71=