Canonical Allele Identifier: CA3563605
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs763688050
ExAC: 5:172659644 A / T
gnomAD v2: 5-172659644-A-T
gnomAD v4: 5-173232641-A-T
MyVariant Identifiers: chr5:g.172659644A>T (hg19) chr5:g.173232641A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232641A>T , CM000667.2:g.173232641A>T GRCh38
NC_000005.9:g.172659644A>T , CM000667.1:g.172659644A>T GRCh37
NC_000005.8:g.172592250A>T NCBI36
NG_013340.1:g.7672T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.903T>A MANE Select ENSP00000327758.4:p.Asn301Lys
ENST00000329198.4:c.903T>A ENSP00000327758.4:p.Asn301Lys
NM_001166175.1:c.*856T>A NP_001159647.1:n.*856T>A
NM_001166176.1:c.*702T>A NP_001159648.1:n.*702T>A
NM_004387.3:c.903T>A NP_004378.1:p.Asn301Lys
NM_004387.4:c.903T>A MANE Select NP_004378.1:p.Asn301Lys
NM_001166175.2:c.*856T>A NP_001159647.1:n.*856T>A
NM_001166176.2:c.*702T>A NP_001159648.1:n.*702T>A
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