Canonical Allele Identifier: CA362161240
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1289763464
MyVariant Identifiers: chr5:g.172659798T>C (hg19) chr5:g.173232795T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232795T>C , CM000667.2:g.173232795T>C GRCh38
NC_000005.9:g.172659798T>C , CM000667.1:g.172659798T>C GRCh37
NC_000005.8:g.172592404T>C NCBI36
NG_013340.1:g.7518A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.749A>G MANE Select ENSP00000327758.4:p.Tyr250Cys
ENST00000329198.4:c.749A>G ENSP00000327758.4:p.Tyr250Cys
NM_001166175.1:c.*702A>G NP_001159647.1:n.*702A>G
NM_001166176.1:c.*548A>G NP_001159648.1:n.*548A>G
NM_004387.3:c.749A>G NP_004378.1:p.Tyr250Cys
NM_004387.4:c.749A>G MANE Select NP_004378.1:p.Tyr250Cys
NM_001166175.2:c.*702A>G NP_001159647.1:n.*702A>G
NM_001166176.2:c.*548A>G NP_001159648.1:n.*548A>G
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