Canonical Allele Identifier: CA2769460501

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232461T>C , CM000667.2:g.173232461T>C	GRCh38
NC_000005.9:g.172659464T>C , CM000667.1:g.172659464T>C	GRCh37
NC_000005.8:g.172592070T>C	NCBI36
NG_013340.1:g.7852A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*108A>G MANE Select	ENSP00000327758.4:n.*108A>G
ENST00000329198.4:c.*108A>G	ENSP00000327758.4:n.*108A>G
NM_001166175.1:c.*1036A>G	NP_001159647.1:n.*1036A>G
NM_001166176.1:c.*882A>G	NP_001159648.1:n.*882A>G
NM_004387.3:c.*108A>G	NP_004378.1:n.*108A>G
NM_004387.4:c.*108A>G MANE Select	NP_004378.1:n.*108A>G
NM_001166175.2:c.*1036A>G	NP_001159647.1:n.*1036A>G
NM_001166176.2:c.*882A>G	NP_001159648.1:n.*882A>G