Canonical Allele Identifier: CA660322
Gene: CDA HGNC NCBI

Linked Data

dbSNP Id: rs1048977
gnomAD v2: 1-20945055-C-T
gnomAD v3: 1-20618562-C-T
gnomAD v4: 1-20618562-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20618562C>T , CM000663.2:g.20618562C>T GRCh38
NC_000001.10:g.20945055C>T , CM000663.1:g.20945055C>T GRCh37
NC_000001.9:g.20817642C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375071.4:c.435C>T MANE Select ENSP00000364212.3:p.Thr145=
ENST00000375071.3:c.435C>T ENSP00000364212.3:p.Thr145=
ENST00000461985.1:n.421C>T
NM_001785.2:c.435C>T NP_001776.1:p.Thr145=
NM_001785.3:c.435C>T MANE Select NP_001776.1:p.Thr145=