Canonical Allele Identifier: CA1584339122
Gene: PITX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029011G= , CM000667.2:g.135029011G= GRCh38
NC_000005.9:g.134364701G= , CM000667.1:g.134364701G= GRCh37
NC_000005.8:g.134392600G= NCBI36
NG_012114.1:g.10264C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.713C= MANE Select ENSP00000265340.6:p.Pro238=
ENST00000265340.11:c.713C= ENSP00000265340.6:p.Pro238=
ENST00000506438.5:c.713C= ENSP00000427542.1:p.Pro238=
NM_002653.4:c.713C= NP_002644.4:p.Pro238=
NM_002653.5:c.713C= MANE Select NP_002644.4:p.Pro238=
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