Canonical Allele Identifier: CA1601615669
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232554A= , CM000667.2:g.173232554A= GRCh38
NC_000005.9:g.172659557A= , CM000667.1:g.172659557A= GRCh37
NC_000005.8:g.172592163A= NCBI36
NG_013340.1:g.7759T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*15T= MANE Select ENSP00000327758.4:n.*15T=
ENST00000329198.4:c.*15T= ENSP00000327758.4:n.*15T=
NM_001166175.1:c.*943T= NP_001159647.1:n.*943T=
NM_001166176.1:c.*789T= NP_001159648.1:n.*789T=
NM_004387.3:c.*15T= NP_004378.1:n.*15T=
NM_004387.4:c.*15T= MANE Select NP_004378.1:n.*15T=
NM_001166175.2:c.*943T= NP_001159647.1:n.*943T=
NM_001166176.2:c.*789T= NP_001159648.1:n.*789T=