Canonical Allele Identifier: CA362160982
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659669A>G (hg19) chr5:g.173232666A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232666A>G , CM000667.2:g.173232666A>G GRCh38
NC_000005.9:g.172659669A>G , CM000667.1:g.172659669A>G GRCh37
NC_000005.8:g.172592275A>G NCBI36
NG_013340.1:g.7647T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.878T>C MANE Select ENSP00000327758.4:p.Val293Ala
ENST00000329198.4:c.878T>C ENSP00000327758.4:p.Val293Ala
NM_001166175.1:c.*831T>C NP_001159647.1:n.*831T>C
NM_001166176.1:c.*677T>C NP_001159648.1:n.*677T>C
NM_004387.3:c.878T>C NP_004378.1:p.Val293Ala
NM_004387.4:c.878T>C MANE Select NP_004378.1:p.Val293Ala
NM_001166175.2:c.*831T>C NP_001159647.1:n.*831T>C
NM_001166176.2:c.*677T>C NP_001159648.1:n.*677T>C
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