Canonical Allele Identifier: CA823931190
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1290661875
gnomAD v3: 6-32040286-T-G
gnomAD v4: 6-32040286-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040286T>G , CM000668.2:g.32040286T>G GRCh38
NC_000006.11:g.32008063T>G , CM000668.1:g.32008063T>G GRCh37
NC_000006.10:g.32116042T>G NCBI36
NG_007941.2:g.6979T>G
NG_008337.2:g.74089A>C
NG_007941.3:g.6982T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.939+81T>G MANE Select ENSP00000496625.1:n.939+81T>G
ENST00000418967.6:c.939+81T>G ENSP00000408860.2:n.939+81T>G
ENST00000435122.3:c.849+81T>G ENSP00000415043.2:n.849+81T>G
ENST00000479074.5:n.997+81T>G
ENST00000479730.5:n.1055+81T>G
ENST00000483041.5:n.1108+81T>G
ENST00000486063.5:n.919-120T>G
NM_000500.7:c.939+81T>G NP_000491.4:n.939+81T>G
NM_001128590.3:c.849+81T>G NP_001122062.3:n.849+81T>G
XM_011514314.1:c.534+81T>G XP_011512616.1:n.534+81T>G
NM_000500.9:c.939+81T>G MANE Select NP_000491.4:n.939+81T>G
NM_001368143.1:c.534+81T>G NP_001355072.1:n.534+81T>G
NM_001368144.1:c.534+81T>G NP_001355073.1:n.534+81T>G
NM_001128590.4:c.849+81T>G NP_001122062.3:n.849+81T>G
NM_001368143.2:c.534+81T>G NP_001355072.1:n.534+81T>G
NM_001368144.2:c.534+81T>G NP_001355073.1:n.534+81T>G