Canonical Allele Identifier: CA361027736
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029044G>A , CM000667.2:g.135029044G>A GRCh38
NC_000005.9:g.134364734G>A , CM000667.1:g.134364734G>A GRCh37
NC_000005.8:g.134392633G>A NCBI36
NG_012114.1:g.10231C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.680C>T MANE Select ENSP00000265340.6:p.Ser227Phe
ENST00000265340.11:c.680C>T ENSP00000265340.6:p.Ser227Phe
ENST00000506438.5:c.680C>T ENSP00000427542.1:p.Ser227Phe
NM_002653.4:c.680C>T NP_002644.4:p.Ser227Phe
NM_002653.5:c.680C>T MANE Select NP_002644.4:p.Ser227Phe