Canonical Allele Identifier: CA2675353485
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028604-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028604A>G , CM000667.2:g.135028604A>G GRCh38
NC_000005.9:g.134364294A>G , CM000667.1:g.134364294A>G GRCh37
NC_000005.8:g.134392193A>G NCBI36
NG_012114.1:g.10671T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*175T>C MANE Select ENSP00000265340.6:n.*175T>C
ENST00000265340.11:c.*175T>C ENSP00000265340.6:n.*175T>C
ENST00000506438.5:c.*175T>C ENSP00000427542.1:n.*175T>C
NM_002653.4:c.*175T>C NP_002644.4:n.*175T>C
NM_002653.5:c.*175T>C MANE Select NP_002644.4:n.*175T>C
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