Canonical Allele Identifier: CA3563602
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 519109
dbSNP Id: rs529731562

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232638C>G , CM000667.2:g.173232638C>G GRCh38
NC_000005.9:g.172659641C>G , CM000667.1:g.172659641C>G GRCh37
NC_000005.8:g.172592247C>G NCBI36
NG_013340.1:g.7675G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.906G>C MANE Select ENSP00000327758.4:p.Ala302=
ENST00000329198.4:c.906G>C ENSP00000327758.4:p.Ala302=
NM_001166175.1:c.*859G>C NP_001159647.1:n.*859G>C
NM_001166176.1:c.*705G>C NP_001159648.1:n.*705G>C
NM_004387.3:c.906G>C NP_004378.1:p.Ala302=
NM_004387.4:c.906G>C MANE Select NP_004378.1:p.Ala302=
NM_001166175.2:c.*859G>C NP_001159647.1:n.*859G>C
NM_001166176.2:c.*705G>C NP_001159648.1:n.*705G>C