Canonical Allele Identifier: CA362160650
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232571A>C , CM000667.2:g.173232571A>C GRCh38
NC_000005.9:g.172659574A>C , CM000667.1:g.172659574A>C GRCh37
NC_000005.8:g.172592180A>C NCBI36
NG_013340.1:g.7742T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.973T>G MANE Select ENSP00000327758.4:p.Ter325Glu
ENST00000329198.4:c.973T>G ENSP00000327758.4:p.Ter325Glu
NM_001166175.1:c.*926T>G NP_001159647.1:n.*926T>G
NM_001166176.1:c.*772T>G NP_001159648.1:n.*772T>G
NM_004387.3:c.973T>G NP_004378.1:p.Ter325Glu
NM_004387.4:c.973T>G MANE Select NP_004378.1:p.Ter325Glu
NM_001166175.2:c.*926T>G NP_001159647.1:n.*926T>G
NM_001166176.2:c.*772T>G NP_001159648.1:n.*772T>G