Canonical Allele Identifier: CA1601615828

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232824G= , CM000667.2:g.173232824G=	GRCh38
NC_000005.9:g.172659827G= , CM000667.1:g.172659827G=	GRCh37
NC_000005.8:g.172592433G=	NCBI36
NG_013340.1:g.7489C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.720C= MANE Select	ENSP00000327758.4:p.Ala240=
ENST00000329198.4:c.720C=	ENSP00000327758.4:p.Ala240=
NM_001166175.1:c.*673C=	NP_001159647.1:n.*673C=
NM_001166176.1:c.*519C=	NP_001159648.1:n.*519C=
NM_004387.3:c.720C=	NP_004378.1:p.Ala240=
NM_004387.4:c.720C= MANE Select	NP_004378.1:p.Ala240=
NM_001166175.2:c.*673C=	NP_001159647.1:n.*673C=
NM_001166176.2:c.*519C=	NP_001159648.1:n.*519C=