Canonical Allele Identifier: CA3732550
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs78884659
gnomAD v2: 6-32007864-C-A
gnomAD v3: 6-32040087-C-A
gnomAD v4: 6-32040087-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040087C>A , CM000668.2:g.32040087C>A GRCh38
NC_000006.11:g.32007864C>A , CM000668.1:g.32007864C>A GRCh37
NC_000006.10:g.32115843C>A NCBI36
NG_007941.2:g.6780C>A
NG_008337.2:g.74288G>T
NG_007941.3:g.6783C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.821C>A MANE Select ENSP00000496625.1:p.Ser274Tyr
ENST00000418967.6:c.821C>A ENSP00000408860.2:p.Ser274Tyr
ENST00000435122.3:c.731C>A ENSP00000415043.2:p.Ser244Tyr
ENST00000479074.5:n.879C>A
ENST00000479730.5:n.937C>A
ENST00000483041.5:n.990C>A
ENST00000486063.5:n.918+252C>A
NM_000500.7:c.821C>A NP_000491.4:p.Ser274Tyr
NM_001128590.3:c.731C>A NP_001122062.3:p.Ser244Tyr
XM_011514314.1:c.416C>A XP_011512616.1:p.Ser139Tyr
NM_000500.9:c.821C>A MANE Select NP_000491.4:p.Ser274Tyr
NM_001368143.1:c.416C>A NP_001355072.1:p.Ser139Tyr
NM_001368144.1:c.416C>A NP_001355073.1:p.Ser139Tyr
NM_001128590.4:c.731C>A NP_001122062.3:p.Ser244Tyr
NM_001368143.2:c.416C>A NP_001355072.1:p.Ser139Tyr
NM_001368144.2:c.416C>A NP_001355073.1:p.Ser139Tyr