Canonical Allele Identifier: CA338848432

Gene: CDA

Linked Data

• MyVariant Identifiers: chr1:g.20944961C>A (hg19) ; chr1:g.20618468C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20618468C>A , CM000663.2:g.20618468C>A	GRCh38
NC_000001.10:g.20944961C>A , CM000663.1:g.20944961C>A	GRCh37
NC_000001.9:g.20817548C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000375071.4:c.341C>A MANE Select	ENSP00000364212.3:p.Pro114His
ENST00000375071.3:c.341C>A	ENSP00000364212.3:p.Pro114His
ENST00000461985.1:n.327C>A
NM_001785.2:c.341C>A	NP_001776.1:p.Pro114His
NM_001785.3:c.341C>A MANE Select	NP_001776.1:p.Pro114His