Canonical Allele Identifier: CA1584336351
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028780C= , CM000667.2:g.135028780C= GRCh38
NC_000005.9:g.134364470C= , CM000667.1:g.134364470C= GRCh37
NC_000005.8:g.134392369C= NCBI36
NG_012114.1:g.10495G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.944G= MANE Select ENSP00000265340.6:p.Ter315=
ENST00000265340.11:c.944G= ENSP00000265340.6:p.Ter315=
ENST00000506438.5:c.944G= ENSP00000427542.1:p.Ter315=
NM_002653.4:c.944G= NP_002644.4:p.Ter315=
NM_002653.5:c.944G= MANE Select NP_002644.4:p.Ter315=