Canonical Allele Identifier: CA5662737

Gene: PITX3 GBF1

Linked Data

• ClinVar Variation Id: 1306042
• ClinVar RCV Id: RCV001766995 ; RCV004040128
• dbSNP Id: rs568438692
• ExAC: 10:103990783 A / G
• gnomAD v2: 10-103990783-A-G
• gnomAD v3: 10-102231026-A-G
• gnomAD v4: 10-102231026-A-G
• MyVariant Identifiers: chr10:g.103990783A>G (hg19) ; chr10:g.102231026A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102231026A>G , CM000672.2:g.102231026A>G	GRCh38
NC_000010.10:g.103990783A>G , CM000672.1:g.103990783A>G	GRCh37
NC_000010.9:g.103980773A>G	NCBI36
NG_008147.1:g.15449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370002.8:c.397T>C (PITX3) MANE Select	ENSP00000359019.3:p.Phe133Leu
ENST00000370002.7:c.397T>C (PITX3)	ENSP00000359019.3:p.Phe133Leu
ENST00000539804.1:c.397T>C (PITX3)	ENSP00000439383.1:p.Phe133Leu
NM_005029.3:c.397T>C (PITX3)	NP_005020.1:p.Phe133Leu
XM_011539865.1:c.415T>C (PITX3)	XP_011538167.1:p.Phe139Leu
NM_005029.4:c.397T>C (PITX3) MANE Select	NP_005020.1:p.Phe133Leu
NM_001391923.1:c.-11+110A>G (GBF1)	NP_001378852.1:n.-11+110A>G
NM_001391924.1:c.-149+110A>G (GBF1)	NP_001378853.1:n.-149+110A>G