Canonical Allele Identifier: CA1601615860

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232888G= , CM000667.2:g.173232888G=	GRCh38
NC_000005.9:g.172659891G= , CM000667.1:g.172659891G=	GRCh37
NC_000005.8:g.172592497G=	NCBI36
NG_013340.1:g.7425C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.656C= MANE Select	ENSP00000327758.4:p.Ala219=
ENST00000329198.4:c.656C=	ENSP00000327758.4:p.Ala219=
NM_001166175.1:c.*609C=	NP_001159647.1:n.*609C=
NM_001166176.1:c.*455C=	NP_001159648.1:n.*455C=
NM_004387.3:c.656C=	NP_004378.1:p.Ala219=
NM_004387.4:c.656C= MANE Select	NP_004378.1:p.Ala219=
NM_001166175.2:c.*609C=	NP_001159647.1:n.*609C=
NM_001166176.2:c.*455C=	NP_001159648.1:n.*455C=