Canonical Allele Identifier: CA1601615614
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232448C= , CM000667.2:g.173232448C= GRCh38
NC_000005.9:g.172659451C= , CM000667.1:g.172659451C= GRCh37
NC_000005.8:g.172592057C= NCBI36
NG_013340.1:g.7865G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*121G= MANE Select ENSP00000327758.4:n.*121G=
ENST00000329198.4:c.*121G= ENSP00000327758.4:n.*121G=
NM_001166175.1:c.*1049G= NP_001159647.1:n.*1049G=
NM_001166176.1:c.*895G= NP_001159648.1:n.*895G=
NM_004387.3:c.*121G= NP_004378.1:n.*121G=
NM_004387.4:c.*121G= MANE Select NP_004378.1:n.*121G=
NM_001166175.2:c.*1049G= NP_001159647.1:n.*1049G=
NM_001166176.2:c.*895G= NP_001159648.1:n.*895G=