Canonical Allele Identifier: CA1601615655
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232521A= , CM000667.2:g.173232521A= GRCh38
NC_000005.9:g.172659524A= , CM000667.1:g.172659524A= GRCh37
NC_000005.8:g.172592130A= NCBI36
NG_013340.1:g.7792T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*48T= MANE Select ENSP00000327758.4:n.*48T=
ENST00000329198.4:c.*48T= ENSP00000327758.4:n.*48T=
NM_001166175.1:c.*976T= NP_001159647.1:n.*976T=
NM_001166176.1:c.*822T= NP_001159648.1:n.*822T=
NM_004387.3:c.*48T= NP_004378.1:n.*48T=
NM_004387.4:c.*48T= MANE Select NP_004378.1:n.*48T=
NM_001166175.2:c.*976T= NP_001159647.1:n.*976T=
NM_001166176.2:c.*822T= NP_001159648.1:n.*822T=