Canonical Allele Identifier: CA15633815

Gene: PITX3 GBF1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102238914A>T , CM000672.2:g.102238914A>T	GRCh38
NC_000010.10:g.103998671A>T , CM000672.1:g.103998671A>T	GRCh37
NC_000010.9:g.103988661A>T	NCBI36
NG_008147.1:g.7561T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370002.8:c.-13+2419T>A (PITX3) MANE Select	ENSP00000359019.3:n.-13+2419T>A
ENST00000370002.7:c.-13+2419T>A (PITX3)	ENSP00000359019.3:n.-13+2419T>A
NM_005029.3:c.-13+2419T>A (PITX3)	NP_005020.1:n.-13+2419T>A
NM_005029.4:c.-13+2419T>A (PITX3) MANE Select	NP_005020.1:n.-13+2419T>A
NM_001391923.1:c.-11+7998A>T (GBF1)	NP_001378852.1:n.-11+7998A>T
NM_001391924.1:c.-148-6730A>T (GBF1)	NP_001378853.1:n.-148-6730A>T