Canonical Allele Identifier: CA1619396322
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1775975924
gnomAD v4: 6-32038393-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038393G>A , CM000668.2:g.32038393G>A GRCh38
NC_000006.11:g.32006170G>A , CM000668.1:g.32006170G>A GRCh37
NC_000006.10:g.32114149G>A NCBI36
NG_007941.2:g.5089G>A
NG_007941.3:g.5089G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000418967.6:c.-30G>A ENSP00000408860.2:n.-30G>A
ENST00000466779.5:c.-30G>A ENSP00000417321.1:n.-30G>A
ENST00000478281.5:c.-30G>A ENSP00000419572.1:n.-30G>A
ENST00000479074.5:n.29G>A
ENST00000479730.5:n.29G>A
ENST00000480027.1:n.24G>A
ENST00000483041.5:n.24G>A
ENST00000486063.5:n.54G>A
NM_000500.7:c.-30G>A NP_000491.4:n.-30G>A
NM_001128590.3:c.-30G>A NP_001122062.3:n.-30G>A
XM_011514314.1:c.-454G>A XP_011512616.1:n.-454G>A
NM_001368143.1:c.-454G>A NP_001355072.1:n.-454G>A
NM_001368144.1:c.-364G>A NP_001355073.1:n.-364G>A