Canonical Allele Identifier: CA1601615612
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232444G= , CM000667.2:g.173232444G= GRCh38
NC_000005.9:g.172659447G= , CM000667.1:g.172659447G= GRCh37
NC_000005.8:g.172592053G= NCBI36
NG_013340.1:g.7869C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*125C= MANE Select ENSP00000327758.4:n.*125C=
ENST00000329198.4:c.*125C= ENSP00000327758.4:n.*125C=
NM_001166175.1:c.*1053C= NP_001159647.1:n.*1053C=
NM_001166176.1:c.*899C= NP_001159648.1:n.*899C=
NM_004387.3:c.*125C= NP_004378.1:n.*125C=
NM_004387.4:c.*125C= MANE Select NP_004378.1:n.*125C=
NM_001166175.2:c.*1053C= NP_001159647.1:n.*1053C=
NM_001166176.2:c.*899C= NP_001159648.1:n.*899C=