Canonical Allele Identifier: CA1601615699
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232604C= , CM000667.2:g.173232604C= GRCh38
NC_000005.9:g.172659607C= , CM000667.1:g.172659607C= GRCh37
NC_000005.8:g.172592213C= NCBI36
NG_013340.1:g.7709G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.940G= MANE Select ENSP00000327758.4:p.Gly314=
ENST00000329198.4:c.940G= ENSP00000327758.4:p.Gly314=
NM_001166175.1:c.*893G= NP_001159647.1:n.*893G=
NM_001166176.1:c.*739G= NP_001159648.1:n.*739G=
NM_004387.3:c.940G= NP_004378.1:p.Gly314=
NM_004387.4:c.940G= MANE Select NP_004378.1:p.Gly314=
NM_001166175.2:c.*893G= NP_001159647.1:n.*893G=
NM_001166176.2:c.*739G= NP_001159648.1:n.*739G=