Canonical Allele Identifier: CA1601615867

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232898G= , CM000667.2:g.173232898G=	GRCh38
NC_000005.9:g.172659901G= , CM000667.1:g.172659901G=	GRCh37
NC_000005.8:g.172592507G=	NCBI36
NG_013340.1:g.7415C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004387.4:c.646C= MANE Select	NP_004378.1:p.Arg216=
ENST00000329198.5:c.646C= MANE Select	ENSP00000327758.4:p.Arg216=
NM_001166175.1:c.*599C=	NP_001159647.1:n.*599C=
NM_001166175.2:c.*599C=	NP_001159647.1:n.*599C=
NM_001166176.1:c.*445C=	NP_001159648.1:n.*445C=
NM_001166176.2:c.*445C=	NP_001159648.1:n.*445C=
NM_004387.3:c.646C=	NP_004378.1:p.Arg216=
ENST00000329198.4:c.646C=	ENSP00000327758.4:p.Arg216=
ENST00000424406.2:c.*599C=	ENSP00000395378.2:n.*599C=
ENST00000521848.1:c.*445C=	ENSP00000427906.1:n.*445C=