Canonical Allele Identifier: CA1584336017
Gene: PITX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028403G= , CM000667.2:g.135028403G= GRCh38
NC_000005.9:g.134364093G= , CM000667.1:g.134364093G= GRCh37
NC_000005.8:g.134391992G= NCBI36
NG_012114.1:g.10872C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*376C= MANE Select ENSP00000265340.6:n.*376C=
ENST00000265340.11:c.*376C= ENSP00000265340.6:n.*376C=
NM_002653.4:c.*376C= NP_002644.4:n.*376C=
NM_002653.5:c.*376C= MANE Select NP_002644.4:n.*376C=
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