Canonical Allele Identifier: CA1584336039
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028431G= , CM000667.2:g.135028431G= GRCh38
NC_000005.9:g.134364121G= , CM000667.1:g.134364121G= GRCh37
NC_000005.8:g.134392020G= NCBI36
NG_012114.1:g.10844C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*348C= MANE Select ENSP00000265340.6:n.*348C=
ENST00000265340.11:c.*348C= ENSP00000265340.6:n.*348C=
NM_002653.4:c.*348C= NP_002644.4:n.*348C=
NM_002653.5:c.*348C= MANE Select NP_002644.4:n.*348C=