Canonical Allele Identifier: CA1601615724

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232653G= , CM000667.2:g.173232653G=	GRCh38
NC_000005.9:g.172659656G= , CM000667.1:g.172659656G=	GRCh37
NC_000005.8:g.172592262G=	NCBI36
NG_013340.1:g.7660C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.891C= MANE Select	ENSP00000327758.4:p.Val297=
ENST00000329198.4:c.891C=	ENSP00000327758.4:p.Val297=
NM_001166175.1:c.*844C=	NP_001159647.1:n.*844C=
NM_001166176.1:c.*690C=	NP_001159648.1:n.*690C=
NM_004387.3:c.891C=	NP_004378.1:p.Val297=
NM_004387.4:c.891C= MANE Select	NP_004378.1:p.Val297=
NM_001166175.2:c.*844C=	NP_001159647.1:n.*844C=
NM_001166176.2:c.*690C=	NP_001159648.1:n.*690C=