Canonical Allele Identifier: CA361027733
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029042T>A , CM000667.2:g.135029042T>A GRCh38
NC_000005.9:g.134364732T>A , CM000667.1:g.134364732T>A GRCh37
NC_000005.8:g.134392631T>A NCBI36
NG_012114.1:g.10233A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.682A>T MANE Select ENSP00000265340.6:p.Ser228Cys
ENST00000265340.11:c.682A>T ENSP00000265340.6:p.Ser228Cys
ENST00000506438.5:c.682A>T ENSP00000427542.1:p.Ser228Cys
NM_002653.4:c.682A>T NP_002644.4:p.Ser228Cys
NM_002653.5:c.682A>T MANE Select NP_002644.4:p.Ser228Cys