Canonical Allele Identifier: CA338848604
Gene: CDA HGNC NCBI

Linked Data

dbSNP Id: rs1248624817
gnomAD v2: 1-20944978-C-T
gnomAD v4: 1-20618485-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20618485C>T , CM000663.2:g.20618485C>T GRCh38
NC_000001.10:g.20944978C>T , CM000663.1:g.20944978C>T GRCh37
NC_000001.9:g.20817565C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375071.4:c.358C>T MANE Select ENSP00000364212.3:p.Pro120Ser
ENST00000375071.3:c.358C>T ENSP00000364212.3:p.Pro120Ser
ENST00000461985.1:n.344C>T
NM_001785.2:c.358C>T NP_001776.1:p.Pro120Ser
NM_001785.3:c.358C>T MANE Select NP_001776.1:p.Pro120Ser