Canonical Allele Identifier: CA1601616052

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233185A= , CM000667.2:g.173233185A=	GRCh38
NC_000005.9:g.172660188A= , CM000667.1:g.172660188A=	GRCh37
NC_000005.8:g.172592794A=	NCBI36
NG_013340.1:g.7128T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.359T= MANE Select	ENSP00000327758.4:p.Val120=
ENST00000329198.4:c.359T=	ENSP00000327758.4:p.Val120=
ENST00000424406.2:c.*312T=	ENSP00000395378.2:n.*312T=
ENST00000521848.1:c.*158T=	ENSP00000427906.1:n.*158T=
NM_001166175.1:c.*312T=	NP_001159647.1:n.*312T=
NM_001166176.1:c.*158T=	NP_001159648.1:n.*158T=
NM_004387.3:c.359T=	NP_004378.1:p.Val120=
NM_004387.4:c.359T= MANE Select	NP_004378.1:p.Val120=
NM_001166175.2:c.*312T=	NP_001159647.1:n.*312T=
NM_001166176.2:c.*158T=	NP_001159648.1:n.*158T=