Canonical Allele Identifier: CA823930914
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1407874578
gnomAD v3: 6-32039937-G-A
gnomAD v4: 6-32039937-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039937G>A , CM000668.2:g.32039937G>A GRCh38
NC_000006.11:g.32007714G>A , CM000668.1:g.32007714G>A GRCh37
NC_000006.10:g.32115693G>A NCBI36
NG_007941.2:g.6630G>A
NG_008337.2:g.74438C>T
NG_007941.3:g.6633G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.739-68G>A MANE Select ENSP00000496625.1:n.739-68G>A
ENST00000418967.6:c.739-68G>A ENSP00000408860.2:n.739-68G>A
ENST00000435122.3:c.649-68G>A ENSP00000415043.2:n.649-68G>A
ENST00000462278.1:n.529G>A
ENST00000479074.5:n.797-68G>A
ENST00000479730.5:n.855-68G>A
ENST00000483041.5:n.908-68G>A
ENST00000486063.5:n.918+102G>A
NM_000500.7:c.739-68G>A NP_000491.4:n.739-68G>A
NM_001128590.3:c.649-68G>A NP_001122062.3:n.649-68G>A
XM_011514314.1:c.334-68G>A XP_011512616.1:n.334-68G>A
NM_000500.9:c.739-68G>A MANE Select NP_000491.4:n.739-68G>A
NM_001368143.1:c.334-68G>A NP_001355072.1:n.334-68G>A
NM_001368144.1:c.334-68G>A NP_001355073.1:n.334-68G>A
NM_001128590.4:c.649-68G>A NP_001122062.3:n.649-68G>A
NM_001368143.2:c.334-68G>A NP_001355072.1:n.334-68G>A
NM_001368144.2:c.334-68G>A NP_001355073.1:n.334-68G>A