Canonical Allele Identifier: CA362161358
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232855C>T , CM000667.2:g.173232855C>T GRCh38
NC_000005.9:g.172659858C>T , CM000667.1:g.172659858C>T GRCh37
NC_000005.8:g.172592464C>T NCBI36
NG_013340.1:g.7458G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.689G>A MANE Select ENSP00000327758.4:p.Cys230Tyr
ENST00000329198.4:c.689G>A ENSP00000327758.4:p.Cys230Tyr
NM_001166175.1:c.*642G>A NP_001159647.1:n.*642G>A
NM_001166176.1:c.*488G>A NP_001159648.1:n.*488G>A
NM_004387.3:c.689G>A NP_004378.1:p.Cys230Tyr
NM_004387.4:c.689G>A MANE Select NP_004378.1:p.Cys230Tyr
NM_001166175.2:c.*642G>A NP_001159647.1:n.*642G>A
NM_001166176.2:c.*488G>A NP_001159648.1:n.*488G>A