Canonical Allele Identifier: CA1584336048
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028442G= , CM000667.2:g.135028442G= GRCh38
NC_000005.9:g.134364132G= , CM000667.1:g.134364132G= GRCh37
NC_000005.8:g.134392031G= NCBI36
NG_012114.1:g.10833C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*337C= MANE Select ENSP00000265340.6:n.*337C=
ENST00000265340.11:c.*337C= ENSP00000265340.6:n.*337C=
NM_002653.4:c.*337C= NP_002644.4:n.*337C=
NM_002653.5:c.*337C= MANE Select NP_002644.4:n.*337C=