Canonical Allele Identifier: CA362160930
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232649C>G , CM000667.2:g.173232649C>G GRCh38
NC_000005.9:g.172659652C>G , CM000667.1:g.172659652C>G GRCh37
NC_000005.8:g.172592258C>G NCBI36
NG_013340.1:g.7664G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.895G>C MANE Select ENSP00000327758.4:p.Asp299His
ENST00000329198.4:c.895G>C ENSP00000327758.4:p.Asp299His
NM_001166175.1:c.*848G>C NP_001159647.1:n.*848G>C
NM_001166176.1:c.*694G>C NP_001159648.1:n.*694G>C
NM_004387.3:c.895G>C NP_004378.1:p.Asp299His
NM_004387.4:c.895G>C MANE Select NP_004378.1:p.Asp299His
NM_001166175.2:c.*848G>C NP_001159647.1:n.*848G>C
NM_001166176.2:c.*694G>C NP_001159648.1:n.*694G>C