Canonical Allele Identifier: CA202356

Gene: PITX3 GBF1

Linked Data

• ClinVar Variation Id: 196404
• ClinVar RCV Id: RCV000177223 ; RCV000828394 ; RCV001788061 ; RCV001788060
• dbSNP Id: rs2281983
• ExAC: 10:103991381 G / A
• gnomAD v2: 10-103991381-G-A
• gnomAD v3: 10-102231624-G-A
• gnomAD v4: 10-102231624-G-A
• MyVariant Identifiers: chr10:g.103991381G>A (hg19) ; chr10:g.102231624G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102231624G>A , CM000672.2:g.102231624G>A	GRCh38
NC_000010.10:g.103991381G>A , CM000672.1:g.103991381G>A	GRCh37
NC_000010.9:g.103981371G>A	NCBI36
NG_008147.1:g.14851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370002.8:c.285C>T (PITX3) MANE Select	ENSP00000359019.3:p.Ile95=
ENST00000370002.7:c.285C>T (PITX3)	ENSP00000359019.3:p.Ile95=
ENST00000539804.1:c.285C>T (PITX3)	ENSP00000439383.1:p.Ile95=
NM_005029.3:c.285C>T (PITX3)	NP_005020.1:p.Ile95=
XM_011539865.1:c.303C>T (PITX3)	XP_011538167.1:p.Ile101=
NM_005029.4:c.285C>T (PITX3) MANE Select	NP_005020.1:p.Ile95=
NM_001391923.1:c.-11+708G>A (GBF1)	NP_001378852.1:n.-11+708G>A
NM_001391924.1:c.-149+708G>A (GBF1)	NP_001378853.1:n.-149+708G>A