Canonical Allele Identifier: CA362161646
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172660002A>T (hg19) chr5:g.173232999A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232999A>T , CM000667.2:g.173232999A>T GRCh38
NC_000005.9:g.172660002A>T , CM000667.1:g.172660002A>T GRCh37
NC_000005.8:g.172592608A>T NCBI36
NG_013340.1:g.7314T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.545T>A MANE Select ENSP00000327758.4:p.Val182Asp
ENST00000329198.4:c.545T>A ENSP00000327758.4:p.Val182Asp
ENST00000424406.2:c.*498T>A ENSP00000395378.2:n.*498T>A
ENST00000521848.1:c.*344T>A ENSP00000427906.1:n.*344T>A
NM_001166175.1:c.*498T>A NP_001159647.1:n.*498T>A
NM_001166176.1:c.*344T>A NP_001159648.1:n.*344T>A
NM_004387.3:c.545T>A NP_004378.1:p.Val182Asp
NM_004387.4:c.545T>A MANE Select NP_004378.1:p.Val182Asp
NM_001166175.2:c.*498T>A NP_001159647.1:n.*498T>A
NM_001166176.2:c.*344T>A NP_001159648.1:n.*344T>A
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