Canonical Allele Identifier: CA447974576
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659821G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232818G>T , CM000667.2:g.173232818G>T GRCh38
NC_000005.9:g.172659821G>T , CM000667.1:g.172659821G>T GRCh37
NC_000005.8:g.172592427G>T NCBI36
NG_013340.1:g.7495C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.726C>A MANE Select ENSP00000327758.4:p.Gly242=
ENST00000329198.4:c.726C>A ENSP00000327758.4:p.Gly242=
NM_001166175.1:c.*679C>A NP_001159647.1:n.*679C>A
NM_001166176.1:c.*525C>A NP_001159648.1:n.*525C>A
NM_004387.3:c.726C>A NP_004378.1:p.Gly242=
NM_004387.4:c.726C>A MANE Select NP_004378.1:p.Gly242=
NM_001166175.2:c.*679C>A NP_001159647.1:n.*679C>A
NM_001166176.2:c.*525C>A NP_001159648.1:n.*525C>A