Canonical Allele Identifier: CA2838983381

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232486A>C , CM000667.2:g.173232486A>C	GRCh38
NC_000005.9:g.172659489A>C , CM000667.1:g.172659489A>C	GRCh37
NC_000005.8:g.172592095A>C	NCBI36
NG_013340.1:g.7827T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*83T>G MANE Select	ENSP00000327758.4:n.*83T>G
ENST00000329198.4:c.*83T>G	ENSP00000327758.4:n.*83T>G
NM_001166175.1:c.*1011T>G	NP_001159647.1:n.*1011T>G
NM_001166176.1:c.*857T>G	NP_001159648.1:n.*857T>G
NM_004387.3:c.*83T>G	NP_004378.1:n.*83T>G
NM_004387.4:c.*83T>G MANE Select	NP_004378.1:n.*83T>G
NM_001166175.2:c.*1011T>G	NP_001159647.1:n.*1011T>G
NM_001166176.2:c.*857T>G	NP_001159648.1:n.*857T>G