Canonical Allele Identifier: CA2676542115
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173232473-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232473G>C , CM000667.2:g.173232473G>C GRCh38
NC_000005.9:g.172659476G>C , CM000667.1:g.172659476G>C GRCh37
NC_000005.8:g.172592082G>C NCBI36
NG_013340.1:g.7840C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*96C>G MANE Select ENSP00000327758.4:n.*96C>G
ENST00000329198.4:c.*96C>G ENSP00000327758.4:n.*96C>G
NM_001166175.1:c.*1024C>G NP_001159647.1:n.*1024C>G
NM_001166176.1:c.*870C>G NP_001159648.1:n.*870C>G
NM_004387.3:c.*96C>G NP_004378.1:n.*96C>G
NM_004387.4:c.*96C>G MANE Select NP_004378.1:n.*96C>G
NM_001166175.2:c.*1024C>G NP_001159647.1:n.*1024C>G
NM_001166176.2:c.*870C>G NP_001159648.1:n.*870C>G
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