Canonical Allele Identifier: CA338848457

Gene: CDA

Linked Data

• MyVariant Identifiers: chr1:g.20944963G>C (hg19) ; chr1:g.20618470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20618470G>C , CM000663.2:g.20618470G>C	GRCh38
NC_000001.10:g.20944963G>C , CM000663.1:g.20944963G>C	GRCh37
NC_000001.9:g.20817550G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000375071.4:c.343G>C MANE Select	ENSP00000364212.3:p.Val115Leu
ENST00000375071.3:c.343G>C	ENSP00000364212.3:p.Val115Leu
ENST00000461985.1:n.329G>C
NM_001785.2:c.343G>C	NP_001776.1:p.Val115Leu
NM_001785.3:c.343G>C MANE Select	NP_001776.1:p.Val115Leu