Canonical Allele Identifier: CA362160915
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232645A>T , CM000667.2:g.173232645A>T GRCh38
NC_000005.9:g.172659648A>T , CM000667.1:g.172659648A>T GRCh37
NC_000005.8:g.172592254A>T NCBI36
NG_013340.1:g.7668T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.899T>A MANE Select ENSP00000327758.4:p.Leu300Ter
ENST00000329198.4:c.899T>A ENSP00000327758.4:p.Leu300Ter
NM_001166175.1:c.*852T>A NP_001159647.1:n.*852T>A
NM_001166176.1:c.*698T>A NP_001159648.1:n.*698T>A
NM_004387.3:c.899T>A NP_004378.1:p.Leu300Ter
NM_004387.4:c.899T>A MANE Select NP_004378.1:p.Leu300Ter
NM_001166175.2:c.*852T>A NP_001159647.1:n.*852T>A
NM_001166176.2:c.*698T>A NP_001159648.1:n.*698T>A