Canonical Allele Identifier: CA362161002
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736707
ClinVar RCV Id: RCV003509023
dbSNP Id: rs1761343333
MyVariant Identifiers: chr5:g.172659676T>A (hg19) chr5:g.173232673T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232673T>A , CM000667.2:g.173232673T>A GRCh38
NC_000005.9:g.172659676T>A , CM000667.1:g.172659676T>A GRCh37
NC_000005.8:g.172592282T>A NCBI36
NG_013340.1:g.7640A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.871A>T MANE Select ENSP00000327758.4:p.Asn291Tyr
ENST00000329198.4:c.871A>T ENSP00000327758.4:p.Asn291Tyr
NM_001166175.1:c.*824A>T NP_001159647.1:n.*824A>T
NM_001166176.1:c.*670A>T NP_001159648.1:n.*670A>T
NM_004387.3:c.871A>T NP_004378.1:p.Asn291Tyr
NM_004387.4:c.871A>T MANE Select NP_004378.1:p.Asn291Tyr
NM_001166175.2:c.*824A>T NP_001159647.1:n.*824A>T
NM_001166176.2:c.*670A>T NP_001159648.1:n.*670A>T
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