Canonical Allele Identifier: CA447974528
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659572C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232569C>T , CM000667.2:g.173232569C>T GRCh38
NC_000005.9:g.172659572C>T , CM000667.1:g.172659572C>T GRCh37
NC_000005.8:g.172592178C>T NCBI36
NG_013340.1:g.7744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.975G>A MANE Select ENSP00000327758.4:p.Ter325=
ENST00000329198.4:c.975G>A ENSP00000327758.4:p.Ter325=
NM_001166175.1:c.*928G>A NP_001159647.1:n.*928G>A
NM_001166176.1:c.*774G>A NP_001159648.1:n.*774G>A
NM_004387.3:c.975G>A NP_004378.1:p.Ter325=
NM_004387.4:c.975G>A MANE Select NP_004378.1:p.Ter325=
NM_001166175.2:c.*928G>A NP_001159647.1:n.*928G>A
NM_001166176.2:c.*774G>A NP_001159648.1:n.*774G>A