Canonical Allele Identifier: CA362161381

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659870T>A (hg19) ; chr5:g.173232867T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232867T>A , CM000667.2:g.173232867T>A	GRCh38
NC_000005.9:g.172659870T>A , CM000667.1:g.172659870T>A	GRCh37
NC_000005.8:g.172592476T>A	NCBI36
NG_013340.1:g.7446A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.677A>T MANE Select	ENSP00000327758.4:p.Asp226Val
ENST00000329198.4:c.677A>T	ENSP00000327758.4:p.Asp226Val
NM_001166175.1:c.*630A>T	NP_001159647.1:n.*630A>T
NM_001166176.1:c.*476A>T	NP_001159648.1:n.*476A>T
NM_004387.3:c.677A>T	NP_004378.1:p.Asp226Val
NM_004387.4:c.677A>T MANE Select	NP_004378.1:p.Asp226Val
NM_001166175.2:c.*630A>T	NP_001159647.1:n.*630A>T
NM_001166176.2:c.*476A>T	NP_001159648.1:n.*476A>T