Canonical Allele Identifier: CA2768505054
Gene: PITX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028448G>T , CM000667.2:g.135028448G>T GRCh38
NC_000005.9:g.134364138G>T , CM000667.1:g.134364138G>T GRCh37
NC_000005.8:g.134392037G>T NCBI36
NG_012114.1:g.10827C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*331C>A MANE Select ENSP00000265340.6:n.*331C>A
ENST00000265340.11:c.*331C>A ENSP00000265340.6:n.*331C>A
NM_002653.4:c.*331C>A NP_002644.4:n.*331C>A
NM_002653.5:c.*331C>A MANE Select NP_002644.4:n.*331C>A
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