Canonical Allele Identifier: CA362160909

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659647C>A (hg19) ; chr5:g.173232644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232644C>A , CM000667.2:g.173232644C>A	GRCh38
NC_000005.9:g.172659647C>A , CM000667.1:g.172659647C>A	GRCh37
NC_000005.8:g.172592253C>A	NCBI36
NG_013340.1:g.7669G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.900G>T MANE Select	ENSP00000327758.4:p.Leu300Phe
ENST00000329198.4:c.900G>T	ENSP00000327758.4:p.Leu300Phe
NM_001166175.1:c.*853G>T	NP_001159647.1:n.*853G>T
NM_001166176.1:c.*699G>T	NP_001159648.1:n.*699G>T
NM_004387.3:c.900G>T	NP_004378.1:p.Leu300Phe
NM_004387.4:c.900G>T MANE Select	NP_004378.1:p.Leu300Phe
NM_001166175.2:c.*853G>T	NP_001159647.1:n.*853G>T
NM_001166176.2:c.*699G>T	NP_001159648.1:n.*699G>T