Canonical Allele Identifier: CA362161796
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233073G>C , CM000667.2:g.173233073G>C GRCh38
NC_000005.9:g.172660076G>C , CM000667.1:g.172660076G>C GRCh37
NC_000005.8:g.172592682G>C NCBI36
NG_013340.1:g.7240C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.471C>G MANE Select ENSP00000327758.4:p.Phe157Leu
ENST00000329198.4:c.471C>G ENSP00000327758.4:p.Phe157Leu
ENST00000424406.2:c.*424C>G ENSP00000395378.2:n.*424C>G
ENST00000521848.1:c.*270C>G ENSP00000427906.1:n.*270C>G
NM_001166175.1:c.*424C>G NP_001159647.1:n.*424C>G
NM_001166176.1:c.*270C>G NP_001159648.1:n.*270C>G
NM_004387.3:c.471C>G NP_004378.1:p.Phe157Leu
NM_004387.4:c.471C>G MANE Select NP_004378.1:p.Phe157Leu
NM_001166175.2:c.*424C>G NP_001159647.1:n.*424C>G
NM_001166176.2:c.*270C>G NP_001159648.1:n.*270C>G