Canonical Allele Identifier: CA2769460505

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232536A>G , CM000667.2:g.173232536A>G	GRCh38
NC_000005.9:g.172659539A>G , CM000667.1:g.172659539A>G	GRCh37
NC_000005.8:g.172592145A>G	NCBI36
NG_013340.1:g.7777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*33T>C MANE Select	ENSP00000327758.4:n.*33T>C
ENST00000329198.4:c.*33T>C	ENSP00000327758.4:n.*33T>C
NM_001166175.1:c.*961T>C	NP_001159647.1:n.*961T>C
NM_001166176.1:c.*807T>C	NP_001159648.1:n.*807T>C
NM_004387.3:c.*33T>C	NP_004378.1:n.*33T>C
NM_004387.4:c.*33T>C MANE Select	NP_004378.1:n.*33T>C
NM_001166175.2:c.*961T>C	NP_001159647.1:n.*961T>C
NM_001166176.2:c.*807T>C	NP_001159648.1:n.*807T>C