Canonical Allele Identifier: CA378162043

Gene: PITX3 GBF1

Linked Data

• gnomAD v4: 10-102231024-G-T
• MyVariant Identifiers: chr10:g.103990781G>T (hg19) ; chr10:g.102231024G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102231024G>T , CM000672.2:g.102231024G>T	GRCh38
NC_000010.10:g.103990781G>T , CM000672.1:g.103990781G>T	GRCh37
NC_000010.9:g.103980771G>T	NCBI36
NG_008147.1:g.15451C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370002.8:c.399C>A (PITX3) MANE Select	ENSP00000359019.3:p.Phe133Leu
ENST00000370002.7:c.399C>A (PITX3)	ENSP00000359019.3:p.Phe133Leu
ENST00000539804.1:c.399C>A (PITX3)	ENSP00000439383.1:p.Phe133Leu
NM_005029.3:c.399C>A (PITX3)	NP_005020.1:p.Phe133Leu
XM_011539865.1:c.417C>A (PITX3)	XP_011538167.1:p.Phe139Leu
NM_005029.4:c.399C>A (PITX3) MANE Select	NP_005020.1:p.Phe133Leu
NM_001391923.1:c.-11+108G>T (GBF1)	NP_001378852.1:n.-11+108G>T
NM_001391924.1:c.-149+108G>T (GBF1)	NP_001378853.1:n.-149+108G>T