Canonical Allele Identifier: CA1584339170
Gene: PITX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029037C= , CM000667.2:g.135029037C= GRCh38
NC_000005.9:g.134364727C= , CM000667.1:g.134364727C= GRCh37
NC_000005.8:g.134392626C= NCBI36
NG_012114.1:g.10238G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.687G= MANE Select ENSP00000265340.6:p.Met229=
ENST00000265340.11:c.687G= ENSP00000265340.6:p.Met229=
ENST00000506438.5:c.687G= ENSP00000427542.1:p.Met229=
NM_002653.4:c.687G= NP_002644.4:p.Met229=
NM_002653.5:c.687G= MANE Select NP_002644.4:p.Met229=
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