Canonical Allele Identifier: CA363499212
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs566306310
gnomAD v2: 6-32006342-A-C
gnomAD v3: 6-32038565-A-C
gnomAD v4: 6-32038565-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038565A>C , CM000668.2:g.32038565A>C GRCh38
NC_000006.11:g.32006342A>C , CM000668.1:g.32006342A>C GRCh37
NC_000006.10:g.32114321A>C NCBI36
NG_007941.2:g.5258A>C
NG_007941.3:g.5261A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.143A>C MANE Select ENSP00000496625.1:p.Tyr48Ser
ENST00000418967.6:c.143A>C ENSP00000408860.2:p.Tyr48Ser
ENST00000435122.3:c.143A>C ENSP00000415043.2:p.Tyr48Ser
ENST00000466779.5:c.143A>C ENSP00000417321.1:p.Tyr48Ser
ENST00000469053.5:c.143A>C ENSP00000418104.1:p.Tyr48Ser
ENST00000471671.4:c.143A>C ENSP00000418561.1:p.Tyr48Ser
ENST00000478281.5:c.143A>C ENSP00000419572.1:p.Tyr48Ser
ENST00000479074.5:n.201A>C
ENST00000479730.5:n.201A>C
ENST00000480027.1:n.196A>C
ENST00000483041.5:n.196A>C
ENST00000486063.5:n.226A>C
ENST00000488465.1:n.151A>C
NM_000500.7:c.143A>C NP_000491.4:p.Tyr48Ser
NM_001128590.3:c.143A>C NP_001122062.3:p.Tyr48Ser
XM_011514314.1:c.-282A>C XP_011512616.1:n.-282A>C
NM_000500.9:c.143A>C MANE Select NP_000491.4:p.Tyr48Ser
NM_001368143.1:c.-282A>C NP_001355072.1:n.-282A>C
NM_001368144.1:c.-192A>C NP_001355073.1:n.-192A>C
NM_001128590.4:c.143A>C NP_001122062.3:p.Tyr48Ser
NM_001368143.2:c.-282A>C NP_001355072.1:n.-282A>C
NM_001368144.2:c.-192A>C NP_001355073.1:n.-192A>C