Canonical Allele Identifier: CA2676542056
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173232404-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232404G>T , CM000667.2:g.173232404G>T GRCh38
NC_000005.9:g.172659407G>T , CM000667.1:g.172659407G>T GRCh37
NC_000005.8:g.172592013G>T NCBI36
NG_013340.1:g.7909C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*165C>A MANE Select ENSP00000327758.4:n.*165C>A
ENST00000329198.4:c.*165C>A ENSP00000327758.4:n.*165C>A
NM_001166175.1:c.*1093C>A NP_001159647.1:n.*1093C>A
NM_001166176.1:c.*939C>A NP_001159648.1:n.*939C>A
NM_004387.3:c.*165C>A NP_004378.1:n.*165C>A
NM_004387.4:c.*165C>A MANE Select NP_004378.1:n.*165C>A
NM_001166175.2:c.*1093C>A NP_001159647.1:n.*1093C>A
NM_001166176.2:c.*939C>A NP_001159648.1:n.*939C>A
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