Canonical Allele Identifier: CA362162005
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1733674
ClinVar RCV Id: RCV002452548
dbSNP Id: rs1241311366

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233179A>G , CM000667.2:g.173233179A>G GRCh38
NC_000005.9:g.172660182A>G , CM000667.1:g.172660182A>G GRCh37
NC_000005.8:g.172592788A>G NCBI36
NG_013340.1:g.7134T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.365T>C MANE Select ENSP00000327758.4:p.Leu122Pro
ENST00000329198.4:c.365T>C ENSP00000327758.4:p.Leu122Pro
ENST00000424406.2:c.*318T>C ENSP00000395378.2:n.*318T>C
ENST00000521848.1:c.*164T>C ENSP00000427906.1:n.*164T>C
NM_001166175.1:c.*318T>C NP_001159647.1:n.*318T>C
NM_001166176.1:c.*164T>C NP_001159648.1:n.*164T>C
NM_004387.3:c.365T>C NP_004378.1:p.Leu122Pro
NM_004387.4:c.365T>C MANE Select NP_004378.1:p.Leu122Pro
NM_001166175.2:c.*318T>C NP_001159647.1:n.*318T>C
NM_001166176.2:c.*164T>C NP_001159648.1:n.*164T>C