Canonical Allele Identifier: CA1601615980
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233084C= , CM000667.2:g.173233084C= GRCh38
NC_000005.9:g.172660087C= , CM000667.1:g.172660087C= GRCh37
NC_000005.8:g.172592693C= NCBI36
NG_013340.1:g.7229G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.460G= MANE Select ENSP00000327758.4:p.Glu154=
ENST00000329198.4:c.460G= ENSP00000327758.4:p.Glu154=
ENST00000424406.2:c.*413G= ENSP00000395378.2:n.*413G=
ENST00000521848.1:c.*259G= ENSP00000427906.1:n.*259G=
NM_001166175.1:c.*413G= NP_001159647.1:n.*413G=
NM_001166176.1:c.*259G= NP_001159648.1:n.*259G=
NM_004387.3:c.460G= NP_004378.1:p.Glu154=
NM_004387.4:c.460G= MANE Select NP_004378.1:p.Glu154=
NM_001166175.2:c.*413G= NP_001159647.1:n.*413G=
NM_001166176.2:c.*259G= NP_001159648.1:n.*259G=