Canonical Allele Identifier: CA447974688
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659638A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232635A>T , CM000667.2:g.173232635A>T GRCh38
NC_000005.9:g.172659638A>T , CM000667.1:g.172659638A>T GRCh37
NC_000005.8:g.172592244A>T NCBI36
NG_013340.1:g.7678T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.909T>A MANE Select ENSP00000327758.4:p.Val303=
ENST00000329198.4:c.909T>A ENSP00000327758.4:p.Val303=
NM_001166175.1:c.*862T>A NP_001159647.1:n.*862T>A
NM_001166176.1:c.*708T>A NP_001159648.1:n.*708T>A
NM_004387.3:c.909T>A NP_004378.1:p.Val303=
NM_004387.4:c.909T>A MANE Select NP_004378.1:p.Val303=
NM_001166175.2:c.*862T>A NP_001159647.1:n.*862T>A
NM_001166176.2:c.*708T>A NP_001159648.1:n.*708T>A