Canonical Allele Identifier: CA362160894
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs371380388

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232639G>A , CM000667.2:g.173232639G>A GRCh38
NC_000005.9:g.172659642G>A , CM000667.1:g.172659642G>A GRCh37
NC_000005.8:g.172592248G>A NCBI36
NG_013340.1:g.7674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.905C>T MANE Select ENSP00000327758.4:p.Ala302Val
ENST00000329198.4:c.905C>T ENSP00000327758.4:p.Ala302Val
NM_001166175.1:c.*858C>T NP_001159647.1:n.*858C>T
NM_001166176.1:c.*704C>T NP_001159648.1:n.*704C>T
NM_004387.3:c.905C>T NP_004378.1:p.Ala302Val
NM_004387.4:c.905C>T MANE Select NP_004378.1:p.Ala302Val
NM_001166175.2:c.*858C>T NP_001159647.1:n.*858C>T
NM_001166176.2:c.*704C>T NP_001159648.1:n.*704C>T