Canonical Allele Identifier: CA447974640
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659854T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232851T>A , CM000667.2:g.173232851T>A GRCh38
NC_000005.9:g.172659854T>A , CM000667.1:g.172659854T>A GRCh37
NC_000005.8:g.172592460T>A NCBI36
NG_013340.1:g.7462A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.693A>T MANE Select ENSP00000327758.4:p.Leu231=
ENST00000329198.4:c.693A>T ENSP00000327758.4:p.Leu231=
NM_001166175.1:c.*646A>T NP_001159647.1:n.*646A>T
NM_001166176.1:c.*492A>T NP_001159648.1:n.*492A>T
NM_004387.3:c.693A>T NP_004378.1:p.Leu231=
NM_004387.4:c.693A>T MANE Select NP_004378.1:p.Leu231=
NM_001166175.2:c.*646A>T NP_001159647.1:n.*646A>T
NM_001166176.2:c.*492A>T NP_001159648.1:n.*492A>T