Canonical Allele Identifier: CA362161682
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233017T>C , CM000667.2:g.173233017T>C GRCh38
NC_000005.9:g.172660020T>C , CM000667.1:g.172660020T>C GRCh37
NC_000005.8:g.172592626T>C NCBI36
NG_013340.1:g.7296A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.527A>G MANE Select ENSP00000327758.4:p.Lys176Arg
ENST00000329198.4:c.527A>G ENSP00000327758.4:p.Lys176Arg
ENST00000424406.2:c.*480A>G ENSP00000395378.2:n.*480A>G
ENST00000521848.1:c.*326A>G ENSP00000427906.1:n.*326A>G
NM_001166175.1:c.*480A>G NP_001159647.1:n.*480A>G
NM_001166176.1:c.*326A>G NP_001159648.1:n.*326A>G
NM_004387.3:c.527A>G NP_004378.1:p.Lys176Arg
NM_004387.4:c.527A>G MANE Select NP_004378.1:p.Lys176Arg
NM_001166175.2:c.*480A>G NP_001159647.1:n.*480A>G
NM_001166176.2:c.*326A>G NP_001159648.1:n.*326A>G