Canonical Allele Identifier: CA1601615918

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232976G= , CM000667.2:g.173232976G=	GRCh38
NC_000005.9:g.172659979G= , CM000667.1:g.172659979G=	GRCh37
NC_000005.8:g.172592585G=	NCBI36
NG_013340.1:g.7337C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004387.4:c.568C= MANE Select	NP_004378.1:p.Arg190=
ENST00000329198.5:c.568C= MANE Select	ENSP00000327758.4:p.Arg190=
NM_001166175.1:c.*521C=	NP_001159647.1:n.*521C=
NM_001166175.2:c.*521C=	NP_001159647.1:n.*521C=
NM_001166176.1:c.*367C=	NP_001159648.1:n.*367C=
NM_001166176.2:c.*367C=	NP_001159648.1:n.*367C=
NM_004387.3:c.568C=	NP_004378.1:p.Arg190=
ENST00000329198.4:c.568C=	ENSP00000327758.4:p.Arg190=
ENST00000424406.2:c.*521C=	ENSP00000395378.2:n.*521C=
ENST00000521848.1:c.*367C=	ENSP00000427906.1:n.*367C=