Canonical Allele Identifier: CA1601615687

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232583T= , CM000667.2:g.173232583T=	GRCh38
NC_000005.9:g.172659586T= , CM000667.1:g.172659586T=	GRCh37
NC_000005.8:g.172592192T=	NCBI36
NG_013340.1:g.7730A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.961A= MANE Select	ENSP00000327758.4:p.Ile321=
ENST00000329198.4:c.961A=	ENSP00000327758.4:p.Ile321=
NM_001166175.1:c.*914A=	NP_001159647.1:n.*914A=
NM_001166176.1:c.*760A=	NP_001159648.1:n.*760A=
NM_004387.3:c.961A=	NP_004378.1:p.Ile321=
NM_004387.4:c.961A= MANE Select	NP_004378.1:p.Ile321=
NM_001166175.2:c.*914A=	NP_001159647.1:n.*914A=
NM_001166176.2:c.*760A=	NP_001159648.1:n.*760A=