Canonical Allele Identifier: CA1601615708

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232621A= , CM000667.2:g.173232621A=	GRCh38
NC_000005.9:g.172659624A= , CM000667.1:g.172659624A=	GRCh37
NC_000005.8:g.172592230A=	NCBI36
NG_013340.1:g.7692T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.923T= MANE Select	ENSP00000327758.4:p.Ile308=
ENST00000329198.4:c.923T=	ENSP00000327758.4:p.Ile308=
NM_001166175.1:c.*876T=	NP_001159647.1:n.*876T=
NM_001166176.1:c.*722T=	NP_001159648.1:n.*722T=
NM_004387.3:c.923T=	NP_004378.1:p.Ile308=
NM_004387.4:c.923T= MANE Select	NP_004378.1:p.Ile308=
NM_001166175.2:c.*876T=	NP_001159647.1:n.*876T=
NM_001166176.2:c.*722T=	NP_001159648.1:n.*722T=