Canonical Allele Identifier: CA1601615845
Gene: NKX2-5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232861T= , CM000667.2:g.173232861T= GRCh38
NC_000005.9:g.172659864T= , CM000667.1:g.172659864T= GRCh37
NC_000005.8:g.172592470T= NCBI36
NG_013340.1:g.7452A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.683A= MANE Select ENSP00000327758.4:p.Lys228=
ENST00000329198.4:c.683A= ENSP00000327758.4:p.Lys228=
NM_001166175.1:c.*636A= NP_001159647.1:n.*636A=
NM_001166176.1:c.*482A= NP_001159648.1:n.*482A=
NM_004387.3:c.683A= NP_004378.1:p.Lys228=
NM_004387.4:c.683A= MANE Select NP_004378.1:p.Lys228=
NM_001166175.2:c.*636A= NP_001159647.1:n.*636A=
NM_001166176.2:c.*482A= NP_001159648.1:n.*482A=