Canonical Allele Identifier: CA1601616047

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233174T= , CM000667.2:g.173233174T=	GRCh38
NC_000005.9:g.172660177T= , CM000667.1:g.172660177T=	GRCh37
NC_000005.8:g.172592783T=	NCBI36
NG_013340.1:g.7139A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.370A= MANE Select	ENSP00000327758.4:p.Lys124=
ENST00000329198.4:c.370A=	ENSP00000327758.4:p.Lys124=
ENST00000424406.2:c.*323A=	ENSP00000395378.2:n.*323A=
ENST00000521848.1:c.*169A=	ENSP00000427906.1:n.*169A=
NM_001166175.1:c.*323A=	NP_001159647.1:n.*323A=
NM_001166176.1:c.*169A=	NP_001159648.1:n.*169A=
NM_004387.3:c.370A=	NP_004378.1:p.Lys124=
NM_004387.4:c.370A= MANE Select	NP_004378.1:p.Lys124=
NM_001166175.2:c.*323A=	NP_001159647.1:n.*323A=
NM_001166176.2:c.*169A=	NP_001159648.1:n.*169A=