Canonical Allele Identifier: CA2676542105
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173232457-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232457T>G , CM000667.2:g.173232457T>G GRCh38
NC_000005.9:g.172659460T>G , CM000667.1:g.172659460T>G GRCh37
NC_000005.8:g.172592066T>G NCBI36
NG_013340.1:g.7856A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*112A>C MANE Select ENSP00000327758.4:n.*112A>C
ENST00000329198.4:c.*112A>C ENSP00000327758.4:n.*112A>C
NM_001166175.1:c.*1040A>C NP_001159647.1:n.*1040A>C
NM_001166176.1:c.*886A>C NP_001159648.1:n.*886A>C
NM_004387.3:c.*112A>C NP_004378.1:n.*112A>C
NM_004387.4:c.*112A>C MANE Select NP_004378.1:n.*112A>C
NM_001166175.2:c.*1040A>C NP_001159647.1:n.*1040A>C
NM_001166176.2:c.*886A>C NP_001159648.1:n.*886A>C
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