Canonical Allele Identifier: CA362160934
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659654C>G (hg19) chr5:g.173232651C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232651C>G , CM000667.2:g.173232651C>G GRCh38
NC_000005.9:g.172659654C>G , CM000667.1:g.172659654C>G GRCh37
NC_000005.8:g.172592260C>G NCBI36
NG_013340.1:g.7662G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.893G>C MANE Select ENSP00000327758.4:p.Gly298Ala
ENST00000329198.4:c.893G>C ENSP00000327758.4:p.Gly298Ala
NM_001166175.1:c.*846G>C NP_001159647.1:n.*846G>C
NM_001166176.1:c.*692G>C NP_001159648.1:n.*692G>C
NM_004387.3:c.893G>C NP_004378.1:p.Gly298Ala
NM_004387.4:c.893G>C MANE Select NP_004378.1:p.Gly298Ala
NM_001166175.2:c.*846G>C NP_001159647.1:n.*846G>C
NM_001166176.2:c.*692G>C NP_001159648.1:n.*692G>C
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