Canonical Allele Identifier: CA2768505059
Gene: PITX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028527A>G , CM000667.2:g.135028527A>G GRCh38
NC_000005.9:g.134364217A>G , CM000667.1:g.134364217A>G GRCh37
NC_000005.8:g.134392116A>G NCBI36
NG_012114.1:g.10748T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*252T>C MANE Select ENSP00000265340.6:n.*252T>C
ENST00000265340.11:c.*252T>C ENSP00000265340.6:n.*252T>C
NM_002653.4:c.*252T>C NP_002644.4:n.*252T>C
NM_002653.5:c.*252T>C MANE Select NP_002644.4:n.*252T>C
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