Canonical Allele Identifier: CA362160997

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659674G>C (hg19) ; chr5:g.173232671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232671G>C , CM000667.2:g.173232671G>C	GRCh38
NC_000005.9:g.172659674G>C , CM000667.1:g.172659674G>C	GRCh37
NC_000005.8:g.172592280G>C	NCBI36
NG_013340.1:g.7642C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.873C>G MANE Select	ENSP00000327758.4:p.Asn291Lys
ENST00000329198.4:c.873C>G	ENSP00000327758.4:p.Asn291Lys
NM_001166175.1:c.*826C>G	NP_001159647.1:n.*826C>G
NM_001166176.1:c.*672C>G	NP_001159648.1:n.*672C>G
NM_004387.3:c.873C>G	NP_004378.1:p.Asn291Lys
NM_004387.4:c.873C>G MANE Select	NP_004378.1:p.Asn291Lys
NM_001166175.2:c.*826C>G	NP_001159647.1:n.*826C>G
NM_001166176.2:c.*672C>G	NP_001159648.1:n.*672C>G