Canonical Allele Identifier: CA660201
Community Standard Title: NM_001785.3(CDA):c.79A>C (p.Lys27Gln)
Gene: CDA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20589208A>C , CM000663.2:g.20589208A>C GRCh38
NC_000001.10:g.20915701A>C , CM000663.1:g.20915701A>C GRCh37
NC_000001.9:g.20788288A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001785.3:c.79A>C MANE Select NP_001776.1:p.Lys27Gln
ENST00000375071.4:c.79A>C MANE Select ENSP00000364212.3:p.Lys27Gln
NM_001785.2:c.79A>C NP_001776.1:p.Lys27Gln
ENST00000375071.3:c.79A>C ENSP00000364212.3:p.Lys27Gln
ENST00000461985.1:n.123A>C
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