Canonical Allele Identifier: CA361027792
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029069A>T , CM000667.2:g.135029069A>T GRCh38
NC_000005.9:g.134364759A>T , CM000667.1:g.134364759A>T GRCh37
NC_000005.8:g.134392658A>T NCBI36
NG_012114.1:g.10206T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.655T>A MANE Select ENSP00000265340.6:p.Ser219Thr
ENST00000265340.11:c.655T>A ENSP00000265340.6:p.Ser219Thr
ENST00000506438.5:c.655T>A ENSP00000427542.1:p.Ser219Thr
NM_002653.4:c.655T>A NP_002644.4:p.Ser219Thr
NM_002653.5:c.655T>A MANE Select NP_002644.4:p.Ser219Thr