Canonical Allele Identifier: CA362160722
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173232591-A-C
MyVariant Identifiers: chr5:g.172659594A>C (hg19) chr5:g.173232591A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232591A>C , CM000667.2:g.173232591A>C GRCh38
NC_000005.9:g.172659594A>C , CM000667.1:g.172659594A>C GRCh37
NC_000005.8:g.172592200A>C NCBI36
NG_013340.1:g.7722T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.953T>G MANE Select ENSP00000327758.4:p.Leu318Arg
ENST00000329198.4:c.953T>G ENSP00000327758.4:p.Leu318Arg
NM_001166175.1:c.*906T>G NP_001159647.1:n.*906T>G
NM_001166176.1:c.*752T>G NP_001159648.1:n.*752T>G
NM_004387.3:c.953T>G NP_004378.1:p.Leu318Arg
NM_004387.4:c.953T>G MANE Select NP_004378.1:p.Leu318Arg
NM_001166175.2:c.*906T>G NP_001159647.1:n.*906T>G
NM_001166176.2:c.*752T>G NP_001159648.1:n.*752T>G
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