Canonical Allele Identifier: CA1601616909
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173234655G= , CM000667.2:g.173234655G= GRCh38
NC_000005.9:g.172661658G= , CM000667.1:g.172661658G= GRCh37
NC_000005.8:g.172594264G= NCBI36
NG_013340.1:g.5658C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.334+95C= MANE Select ENSP00000327758.4:n.334+95C=
ENST00000329198.4:c.334+95C= ENSP00000327758.4:n.334+95C=
ENST00000424406.2:c.334+95C= ENSP00000395378.2:n.334+95C=
ENST00000517440.1:c.334+95C= ENSP00000429905.1:n.334+95C=
ENST00000521848.1:c.334+95C= ENSP00000427906.1:n.334+95C=
NM_001166175.1:c.334+95C= NP_001159647.1:n.334+95C=
NM_001166176.1:c.334+95C= NP_001159648.1:n.334+95C=
NM_004387.3:c.334+95C= NP_004378.1:n.334+95C=
XM_017009071.2:c.334+95C= XP_016864560.1:n.334+95C=
NM_004387.4:c.334+95C= MANE Select NP_004378.1:n.334+95C=
NM_001166175.2:c.334+95C= NP_001159647.1:n.334+95C=
NM_001166176.2:c.334+95C= NP_001159648.1:n.334+95C=