Canonical Allele Identifier: CA132258642

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1044783733
• gnomAD v3: 5-173232504-C-T
• gnomAD v4: 5-173232504-C-T
• MyVariant Identifiers: chr5:g.172659507C>T (hg19) ; chr5:g.173232504C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232504C>T , CM000667.2:g.173232504C>T	GRCh38
NC_000005.9:g.172659507C>T , CM000667.1:g.172659507C>T	GRCh37
NC_000005.8:g.172592113C>T	NCBI36
NG_013340.1:g.7809G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.*65G>A MANE Select	ENSP00000327758.4:n.*65G>A
ENST00000329198.4:c.*65G>A	ENSP00000327758.4:n.*65G>A
NM_001166175.1:c.*993G>A	NP_001159647.1:n.*993G>A
NM_001166176.1:c.*839G>A	NP_001159648.1:n.*839G>A
NM_004387.3:c.*65G>A	NP_004378.1:n.*65G>A
NM_004387.4:c.*65G>A MANE Select	NP_004378.1:n.*65G>A
NM_001166175.2:c.*993G>A	NP_001159647.1:n.*993G>A
NM_001166176.2:c.*839G>A	NP_001159648.1:n.*839G>A