Canonical Allele Identifier: CA362160757

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659603A>T (hg19) ; chr5:g.173232600A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232600A>T , CM000667.2:g.173232600A>T	GRCh38
NC_000005.9:g.172659603A>T , CM000667.1:g.172659603A>T	GRCh37
NC_000005.8:g.172592209A>T	NCBI36
NG_013340.1:g.7713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.944T>A MANE Select	ENSP00000327758.4:p.Val315Glu
ENST00000329198.4:c.944T>A	ENSP00000327758.4:p.Val315Glu
NM_001166175.1:c.*897T>A	NP_001159647.1:n.*897T>A
NM_001166176.1:c.*743T>A	NP_001159648.1:n.*743T>A
NM_004387.3:c.944T>A	NP_004378.1:p.Val315Glu
NM_004387.4:c.944T>A MANE Select	NP_004378.1:p.Val315Glu
NM_001166175.2:c.*897T>A	NP_001159647.1:n.*897T>A
NM_001166176.2:c.*743T>A	NP_001159648.1:n.*743T>A