Canonical Allele Identifier: CA118564

Linked Data

ClinVar Variation Id: 6938
ClinVar RCV Id: RCV000007351
dbSNP Id: rs104894175

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102232043C>T , CM000672.2:g.102232043C>T GRCh38
NC_000010.10:g.103991800C>T , CM000672.1:g.103991800C>T GRCh37
NC_000010.9:g.103981790C>T NCBI36
NG_008147.1:g.14432G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370002.8:c.38G>A (PITX3) MANE Select ENSP00000359019.3:p.Ser13Asn
ENST00000370002.7:c.38G>A (PITX3) ENSP00000359019.3:p.Ser13Asn
ENST00000539804.1:c.38G>A (PITX3) ENSP00000439383.1:p.Ser13Asn
NM_005029.3:c.38G>A (PITX3) NP_005020.1:p.Ser13Asn
XM_011539865.1:c.56G>A (PITX3) XP_011538167.1:p.Ser19Asn
NM_005029.4:c.38G>A (PITX3) MANE Select NP_005020.1:p.Ser13Asn
NM_001391923.1:c.-11+1127C>T (GBF1) NP_001378852.1:n.-11+1127C>T
NM_001391924.1:c.-149+1127C>T (GBF1) NP_001378853.1:n.-149+1127C>T