Canonical Allele Identifier: CA338848313

Gene: CDA

Linked Data

• dbSNP Id: rs967413477
• gnomAD v3: 1-20618463-C-G
• gnomAD v4: 1-20618463-C-G
• MyVariant Identifiers: chr1:g.20944956C>G (hg19) ; chr1:g.20618463C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20618463C>G , CM000663.2:g.20618463C>G	GRCh38
NC_000001.10:g.20944956C>G , CM000663.1:g.20944956C>G	GRCh37
NC_000001.9:g.20817543C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000375071.4:c.336C>G MANE Select	ENSP00000364212.3:p.Asn112Lys
ENST00000375071.3:c.336C>G	ENSP00000364212.3:p.Asn112Lys
ENST00000461985.1:n.322C>G
NM_001785.2:c.336C>G	NP_001776.1:p.Asn112Lys
NM_001785.3:c.336C>G MANE Select	NP_001776.1:p.Asn112Lys