Canonical Allele Identifier: CA1601616048

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233175C= , CM000667.2:g.173233175C=	GRCh38
NC_000005.9:g.172660178C= , CM000667.1:g.172660178C=	GRCh37
NC_000005.8:g.172592784C=	NCBI36
NG_013340.1:g.7138G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.369G= MANE Select	ENSP00000327758.4:p.Glu123=
ENST00000329198.4:c.369G=	ENSP00000327758.4:p.Glu123=
ENST00000424406.2:c.*322G=	ENSP00000395378.2:n.*322G=
ENST00000521848.1:c.*168G=	ENSP00000427906.1:n.*168G=
NM_001166175.1:c.*322G=	NP_001159647.1:n.*322G=
NM_001166176.1:c.*168G=	NP_001159648.1:n.*168G=
NM_004387.3:c.369G=	NP_004378.1:p.Glu123=
NM_004387.4:c.369G= MANE Select	NP_004378.1:p.Glu123=
NM_001166175.2:c.*322G=	NP_001159647.1:n.*322G=
NM_001166176.2:c.*168G=	NP_001159648.1:n.*168G=