Canonical Allele Identifier: CA1601615829
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232830C= , CM000667.2:g.173232830C= GRCh38
NC_000005.9:g.172659833C= , CM000667.1:g.172659833C= GRCh37
NC_000005.8:g.172592439C= NCBI36
NG_013340.1:g.7483G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.714G= MANE Select ENSP00000327758.4:p.Ala238=
ENST00000329198.4:c.714G= ENSP00000327758.4:p.Ala238=
NM_001166175.1:c.*667G= NP_001159647.1:n.*667G=
NM_001166176.1:c.*513G= NP_001159648.1:n.*513G=
NM_004387.3:c.714G= NP_004378.1:p.Ala238=
NM_004387.4:c.714G= MANE Select NP_004378.1:p.Ala238=
NM_001166175.2:c.*667G= NP_001159647.1:n.*667G=
NM_001166176.2:c.*513G= NP_001159648.1:n.*513G=