Canonical Allele Identifier: CA362160801
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2741763
ClinVar RCV Id: RCV003509215
MyVariant Identifiers: chr5:g.172659616T>G (hg19) chr5:g.173232613T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232613T>G , CM000667.2:g.173232613T>G GRCh38
NC_000005.9:g.172659616T>G , CM000667.1:g.172659616T>G GRCh37
NC_000005.8:g.172592222T>G NCBI36
NG_013340.1:g.7700A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.931A>C MANE Select ENSP00000327758.4:p.Ser311Arg
ENST00000329198.4:c.931A>C ENSP00000327758.4:p.Ser311Arg
NM_001166175.1:c.*884A>C NP_001159647.1:n.*884A>C
NM_001166176.1:c.*730A>C NP_001159648.1:n.*730A>C
NM_004387.3:c.931A>C NP_004378.1:p.Ser311Arg
NM_004387.4:c.931A>C MANE Select NP_004378.1:p.Ser311Arg
NM_001166175.2:c.*884A>C NP_001159647.1:n.*884A>C
NM_001166176.2:c.*730A>C NP_001159648.1:n.*730A>C
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