Canonical Allele Identifier: CA1601615959
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233050G= , CM000667.2:g.173233050G= GRCh38
NC_000005.9:g.172660053G= , CM000667.1:g.172660053G= GRCh37
NC_000005.8:g.172592659G= NCBI36
NG_013340.1:g.7263C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.494C= MANE Select ENSP00000327758.4:p.Ala165=
ENST00000329198.4:c.494C= ENSP00000327758.4:p.Ala165=
ENST00000424406.2:c.*447C= ENSP00000395378.2:n.*447C=
ENST00000521848.1:c.*293C= ENSP00000427906.1:n.*293C=
NM_001166175.1:c.*447C= NP_001159647.1:n.*447C=
NM_001166176.1:c.*293C= NP_001159648.1:n.*293C=
NM_004387.3:c.494C= NP_004378.1:p.Ala165=
NM_004387.4:c.494C= MANE Select NP_004378.1:p.Ala165=
NM_001166175.2:c.*447C= NP_001159647.1:n.*447C=
NM_001166176.2:c.*293C= NP_001159648.1:n.*293C=