Canonical Allele Identifier: CA1601615855

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232879A= , CM000667.2:g.173232879A=	GRCh38
NC_000005.9:g.172659882A= , CM000667.1:g.172659882A=	GRCh37
NC_000005.8:g.172592488A=	NCBI36
NG_013340.1:g.7434T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.665T= MANE Select	ENSP00000327758.4:p.Val222=
ENST00000329198.4:c.665T=	ENSP00000327758.4:p.Val222=
NM_001166175.1:c.*618T=	NP_001159647.1:n.*618T=
NM_001166176.1:c.*464T=	NP_001159648.1:n.*464T=
NM_004387.3:c.665T=	NP_004378.1:p.Val222=
NM_004387.4:c.665T= MANE Select	NP_004378.1:p.Val222=
NM_001166175.2:c.*618T=	NP_001159647.1:n.*618T=
NM_001166176.2:c.*464T=	NP_001159648.1:n.*464T=