Canonical Allele Identifier: CA2675353483
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028603-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028603A>T , CM000667.2:g.135028603A>T GRCh38
NC_000005.9:g.134364293A>T , CM000667.1:g.134364293A>T GRCh37
NC_000005.8:g.134392192A>T NCBI36
NG_012114.1:g.10672T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*176T>A MANE Select ENSP00000265340.6:n.*176T>A
ENST00000265340.11:c.*176T>A ENSP00000265340.6:n.*176T>A
ENST00000506438.5:c.*176T>A ENSP00000427542.1:n.*176T>A
NM_002653.4:c.*176T>A NP_002644.4:n.*176T>A
NM_002653.5:c.*176T>A MANE Select NP_002644.4:n.*176T>A
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