Canonical Allele Identifier: CA1601615671
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232556G= , CM000667.2:g.173232556G= GRCh38
NC_000005.9:g.172659559G= , CM000667.1:g.172659559G= GRCh37
NC_000005.8:g.172592165G= NCBI36
NG_013340.1:g.7757C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*13C= MANE Select ENSP00000327758.4:n.*13C=
ENST00000329198.4:c.*13C= ENSP00000327758.4:n.*13C=
NM_001166175.1:c.*941C= NP_001159647.1:n.*941C=
NM_001166176.1:c.*787C= NP_001159648.1:n.*787C=
NM_004387.3:c.*13C= NP_004378.1:n.*13C=
NM_004387.4:c.*13C= MANE Select NP_004378.1:n.*13C=
NM_001166175.2:c.*941C= NP_001159647.1:n.*941C=
NM_001166176.2:c.*787C= NP_001159648.1:n.*787C=