Canonical Allele Identifier: CA136895670
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs879458878
gnomAD v3: 6-32040853-G-A
gnomAD v4: 6-32040853-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040853G>A , CM000668.2:g.32040853G>A GRCh38
NC_000006.11:g.32008630G>A , CM000668.1:g.32008630G>A GRCh37
NC_000006.10:g.32116609G>A NCBI36
NG_007941.2:g.7546G>A
NG_008337.2:g.73522C>T
NG_007941.3:g.7549G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1223-16G>A MANE Select ENSP00000496625.1:n.1223-16G>A
ENST00000418967.6:c.1223-16G>A ENSP00000408860.2:n.1223-16G>A
ENST00000435122.3:c.1133-16G>A ENSP00000415043.2:n.1133-16G>A
ENST00000479074.5:n.1364-16G>A
ENST00000479730.5:n.1339-16G>A
ENST00000483041.5:n.1392-16G>A
ENST00000486063.5:n.1202-16G>A
NM_000500.7:c.1223-16G>A NP_000491.4:n.1223-16G>A
NM_001128590.3:c.1133-16G>A NP_001122062.3:n.1133-16G>A
XM_011514314.1:c.818-16G>A XP_011512616.1:n.818-16G>A
NM_000500.9:c.1223-16G>A MANE Select NP_000491.4:n.1223-16G>A
NM_001368143.1:c.818-16G>A NP_001355072.1:n.818-16G>A
NM_001368144.1:c.818-16G>A NP_001355073.1:n.818-16G>A
NM_001128590.4:c.1133-16G>A NP_001122062.3:n.1133-16G>A
NM_001368143.2:c.818-16G>A NP_001355072.1:n.818-16G>A
NM_001368144.2:c.818-16G>A NP_001355073.1:n.818-16G>A