Canonical Allele Identifier: CA362160800
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2452065
ClinVar RCV Id: RCV003172159
dbSNP Id: rs1761341308
MyVariant Identifiers: chr5:g.172659616T>C (hg19) chr5:g.173232613T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.931A>G MANE Select ENSP00000327758.4:p.Ser311Gly
ENST00000329198.4:c.931A>G ENSP00000327758.4:p.Ser311Gly
NM_001166175.1:c.*884A>G NP_001159647.1:n.*884A>G
NM_001166176.1:c.*730A>G NP_001159648.1:n.*730A>G
NM_004387.3:c.931A>G NP_004378.1:p.Ser311Gly
NM_004387.4:c.931A>G MANE Select NP_004378.1:p.Ser311Gly
NM_001166175.2:c.*884A>G NP_001159647.1:n.*884A>G
NM_001166176.2:c.*730A>G NP_001159648.1:n.*730A>G
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