Canonical Allele Identifier: CA1601615974
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233078G= , CM000667.2:g.173233078G= GRCh38
NC_000005.9:g.172660081G= , CM000667.1:g.172660081G= GRCh37
NC_000005.8:g.172592687G= NCBI36
NG_013340.1:g.7235C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.466C= MANE Select ENSP00000327758.4:p.Arg156=
ENST00000329198.4:c.466C= ENSP00000327758.4:p.Arg156=
ENST00000424406.2:c.*419C= ENSP00000395378.2:n.*419C=
ENST00000521848.1:c.*265C= ENSP00000427906.1:n.*265C=
NM_001166175.1:c.*419C= NP_001159647.1:n.*419C=
NM_001166176.1:c.*265C= NP_001159648.1:n.*265C=
NM_004387.3:c.466C= NP_004378.1:p.Arg156=
NM_004387.4:c.466C= MANE Select NP_004378.1:p.Arg156=
NM_001166175.2:c.*419C= NP_001159647.1:n.*419C=
NM_001166176.2:c.*265C= NP_001159648.1:n.*265C=