Canonical Allele Identifier: CA378163185

Gene: PITX3 GBF1

Linked Data

• MyVariant Identifiers: chr10:g.103991724G>C (hg19) ; chr10:g.102231967G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102231967G>C , CM000672.2:g.102231967G>C	GRCh38
NC_000010.10:g.103991724G>C , CM000672.1:g.103991724G>C	GRCh37
NC_000010.9:g.103981714G>C	NCBI36
NG_008147.1:g.14508C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370002.8:c.114C>G (PITX3) MANE Select	ENSP00000359019.3:p.His38Gln
ENST00000370002.7:c.114C>G (PITX3)	ENSP00000359019.3:p.His38Gln
ENST00000539804.1:c.114C>G (PITX3)	ENSP00000439383.1:p.His38Gln
NM_005029.3:c.114C>G (PITX3)	NP_005020.1:p.His38Gln
XM_011539865.1:c.132C>G (PITX3)	XP_011538167.1:p.His44Gln
NM_005029.4:c.114C>G (PITX3) MANE Select	NP_005020.1:p.His38Gln
NM_001391923.1:c.-11+1051G>C (GBF1)	NP_001378852.1:n.-11+1051G>C
NM_001391924.1:c.-149+1051G>C (GBF1)	NP_001378853.1:n.-149+1051G>C