Canonical Allele Identifier: CA1601617117
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173235050A= , CM000667.2:g.173235050A= GRCh38
NC_000005.9:g.172662053A= , CM000667.1:g.172662053A= GRCh37
NC_000005.8:g.172594659A= NCBI36
NG_013340.1:g.5263T=

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.34T= MANE Select ENSP00000327758.4:p.Phe12=
ENST00000329198.4:c.34T= ENSP00000327758.4:p.Phe12=
ENST00000424406.2:c.34T= ENSP00000395378.2:p.Phe12=
ENST00000517440.1:c.34T= ENSP00000429905.1:p.Phe12=
ENST00000521848.1:c.34T= ENSP00000427906.1:p.Phe12=
NM_001166175.1:c.34T= NP_001159647.1:p.Phe12=
NM_001166176.1:c.34T= NP_001159648.1:p.Phe12=
NM_004387.3:c.34T= NP_004378.1:p.Phe12=
XM_017009071.2:c.34T= XP_016864560.1:p.Phe12=
NM_004387.4:c.34T= MANE Select NP_004378.1:p.Phe12=
NM_001166175.2:c.34T= NP_001159647.1:p.Phe12=
NM_001166176.2:c.34T= NP_001159648.1:p.Phe12=