Canonical Allele Identifier: CA1601616914
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173234667C= , CM000667.2:g.173234667C= GRCh38
NC_000005.9:g.172661670C= , CM000667.1:g.172661670C= GRCh37
NC_000005.8:g.172594276C= NCBI36
NG_013340.1:g.5646G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.334+83G= MANE Select ENSP00000327758.4:n.334+83G=
ENST00000329198.4:c.334+83G= ENSP00000327758.4:n.334+83G=
ENST00000424406.2:c.334+83G= ENSP00000395378.2:n.334+83G=
ENST00000517440.1:c.334+83G= ENSP00000429905.1:n.334+83G=
ENST00000521848.1:c.334+83G= ENSP00000427906.1:n.334+83G=
NM_001166175.1:c.334+83G= NP_001159647.1:n.334+83G=
NM_001166176.1:c.334+83G= NP_001159648.1:n.334+83G=
NM_004387.3:c.334+83G= NP_004378.1:n.334+83G=
XM_017009071.2:c.334+83G= XP_016864560.1:n.334+83G=
NM_004387.4:c.334+83G= MANE Select NP_004378.1:n.334+83G=
NM_001166175.2:c.334+83G= NP_001159647.1:n.334+83G=
NM_001166176.2:c.334+83G= NP_001159648.1:n.334+83G=