Canonical Allele Identifier: CA1601615814

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232799C= , CM000667.2:g.173232799C=	GRCh38
NC_000005.9:g.172659802C= , CM000667.1:g.172659802C=	GRCh37
NC_000005.8:g.172592408C=	NCBI36
NG_013340.1:g.7514G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.745G= MANE Select	ENSP00000327758.4:p.Gly249=
ENST00000329198.4:c.745G=	ENSP00000327758.4:p.Gly249=
NM_001166175.1:c.*698G=	NP_001159647.1:n.*698G=
NM_001166176.1:c.*544G=	NP_001159648.1:n.*544G=
NM_004387.3:c.745G=	NP_004378.1:p.Gly249=
NM_004387.4:c.745G= MANE Select	NP_004378.1:p.Gly249=
NM_001166175.2:c.*698G=	NP_001159647.1:n.*698G=
NM_001166176.2:c.*544G=	NP_001159648.1:n.*544G=