Canonical Allele Identifier: CA362160744
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659600G>C (hg19) chr5:g.173232597G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232597G>C , CM000667.2:g.173232597G>C GRCh38
NC_000005.9:g.172659600G>C , CM000667.1:g.172659600G>C GRCh37
NC_000005.8:g.172592206G>C NCBI36
NG_013340.1:g.7716C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.947C>G MANE Select ENSP00000327758.4:p.Ser316Cys
ENST00000329198.4:c.947C>G ENSP00000327758.4:p.Ser316Cys
NM_001166175.1:c.*900C>G NP_001159647.1:n.*900C>G
NM_001166176.1:c.*746C>G NP_001159648.1:n.*746C>G
NM_004387.3:c.947C>G NP_004378.1:p.Ser316Cys
NM_004387.4:c.947C>G MANE Select NP_004378.1:p.Ser316Cys
NM_001166175.2:c.*900C>G NP_001159647.1:n.*900C>G
NM_001166176.2:c.*746C>G NP_001159648.1:n.*746C>G
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