Canonical Allele Identifier: CA3732371
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs547552654
gnomAD v3: 6-32039165-A-C
gnomAD v4: 6-32039165-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039165A>C , CM000668.2:g.32039165A>C GRCh38
NC_000006.11:g.32006942A>C , CM000668.1:g.32006942A>C GRCh37
NC_000006.10:g.32114921A>C NCBI36
NG_007941.2:g.5858A>C
NG_008337.2:g.75210T>G
NG_007941.3:g.5861A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.364A>C MANE Select ENSP00000496625.1:p.Lys122Gln
ENST00000418967.6:c.364A>C ENSP00000408860.2:p.Lys122Gln
ENST00000435122.3:c.274A>C ENSP00000415043.2:p.Lys92Gln
ENST00000464325.5:n.285A>C
ENST00000466779.5:c.*56A>C ENSP00000417321.1:n.*56A>C
ENST00000466879.5:n.415A>C
ENST00000469053.5:c.*56A>C ENSP00000418104.1:n.*56A>C
ENST00000471671.4:c.364A>C ENSP00000418561.1:p.Lys122Gln
ENST00000478281.5:c.397A>C ENSP00000419572.1:p.Lys133Gln
ENST00000479074.5:n.422A>C
ENST00000479730.5:n.519A>C
ENST00000483041.5:n.533A>C
ENST00000486063.5:n.544A>C
ENST00000488465.1:n.372A>C
NM_000500.7:c.364A>C NP_000491.4:p.Lys122Gln
NM_001128590.3:c.274A>C NP_001122062.3:p.Lys92Gln
XM_011514314.1:c.-42A>C XP_011512616.1:n.-42A>C
NM_000500.9:c.364A>C MANE Select NP_000491.4:p.Lys122Gln
NM_001368143.1:c.-42A>C NP_001355072.1:n.-42A>C
NM_001368144.1:c.-42A>C NP_001355073.1:n.-42A>C
NM_001128590.4:c.274A>C NP_001122062.3:p.Lys92Gln
NM_001368143.2:c.-42A>C NP_001355072.1:n.-42A>C
NM_001368144.2:c.-42A>C NP_001355073.1:n.-42A>C