Canonical Allele Identifier: CA378162108

Linked Data

ClinVar Variation Id: 583055
ClinVar RCV Id: RCV001343873
dbSNP Id: rs1564991469

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102231035T>A , CM000672.2:g.102231035T>A GRCh38
NC_000010.10:g.103990792T>A , CM000672.1:g.103990792T>A GRCh37
NC_000010.9:g.103980782T>A NCBI36
NG_008147.1:g.15440A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370002.8:c.388A>T (PITX3) MANE Select ENSP00000359019.3:p.Lys130Ter
ENST00000370002.7:c.388A>T (PITX3) ENSP00000359019.3:p.Lys130Ter
ENST00000539804.1:c.388A>T (PITX3) ENSP00000439383.1:p.Lys130Ter
NM_005029.3:c.388A>T (PITX3) NP_005020.1:p.Lys130Ter
XM_011539865.1:c.406A>T (PITX3) XP_011538167.1:p.Lys136Ter
NM_005029.4:c.388A>T (PITX3) MANE Select NP_005020.1:p.Lys130Ter
NM_001391923.1:c.-11+119T>A (GBF1) NP_001378852.1:n.-11+119T>A
NM_001391924.1:c.-149+119T>A (GBF1) NP_001378853.1:n.-149+119T>A