Canonical Allele Identifier: CA362161395
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173232874-C-T
MyVariant Identifiers: chr5:g.172659877C>T (hg19) chr5:g.173232874C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232874C>T , CM000667.2:g.173232874C>T GRCh38
NC_000005.9:g.172659877C>T , CM000667.1:g.172659877C>T GRCh37
NC_000005.8:g.172592483C>T NCBI36
NG_013340.1:g.7439G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.670G>A MANE Select ENSP00000327758.4:p.Val224Met
ENST00000329198.4:c.670G>A ENSP00000327758.4:p.Val224Met
NM_001166175.1:c.*623G>A NP_001159647.1:n.*623G>A
NM_001166176.1:c.*469G>A NP_001159648.1:n.*469G>A
NM_004387.3:c.670G>A NP_004378.1:p.Val224Met
NM_004387.4:c.670G>A MANE Select NP_004378.1:p.Val224Met
NM_001166175.2:c.*623G>A NP_001159647.1:n.*623G>A
NM_001166176.2:c.*469G>A NP_001159648.1:n.*469G>A
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