Canonical Allele Identifier: CA2839363060

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232501T>A , CM000667.2:g.173232501T>A	GRCh38
NC_000005.9:g.172659504T>A , CM000667.1:g.172659504T>A	GRCh37
NC_000005.8:g.172592110T>A	NCBI36
NG_013340.1:g.7812A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*68A>T MANE Select	ENSP00000327758.4:n.*68A>T
ENST00000329198.4:c.*68A>T	ENSP00000327758.4:n.*68A>T
NM_001166175.1:c.*996A>T	NP_001159647.1:n.*996A>T
NM_001166176.1:c.*842A>T	NP_001159648.1:n.*842A>T
NM_004387.3:c.*68A>T	NP_004378.1:n.*68A>T
NM_004387.4:c.*68A>T MANE Select	NP_004378.1:n.*68A>T
NM_001166175.2:c.*996A>T	NP_001159647.1:n.*996A>T
NM_001166176.2:c.*842A>T	NP_001159648.1:n.*842A>T