Canonical Allele Identifier: CA1601615616
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232456G= , CM000667.2:g.173232456G= GRCh38
NC_000005.9:g.172659459G= , CM000667.1:g.172659459G= GRCh37
NC_000005.8:g.172592065G= NCBI36
NG_013340.1:g.7857C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*113C= MANE Select ENSP00000327758.4:n.*113C=
ENST00000329198.4:c.*113C= ENSP00000327758.4:n.*113C=
NM_001166175.1:c.*1041C= NP_001159647.1:n.*1041C=
NM_001166176.1:c.*887C= NP_001159648.1:n.*887C=
NM_004387.3:c.*113C= NP_004378.1:n.*113C=
NM_004387.4:c.*113C= MANE Select NP_004378.1:n.*113C=
NM_001166175.2:c.*1041C= NP_001159647.1:n.*1041C=
NM_001166176.2:c.*887C= NP_001159648.1:n.*887C=