Canonical Allele Identifier: CA1619396956
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039434C= , CM000668.2:g.32039434C= GRCh38
NC_000006.11:g.32007211C= , CM000668.1:g.32007211C= GRCh37
NC_000006.10:g.32115190C= NCBI36
NG_007941.2:g.6127C=
NG_008337.2:g.74941G=
NG_007941.3:g.6130C=

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.526C= MANE Select ENSP00000496625.1:p.Leu176=
ENST00000418967.6:c.526C= ENSP00000408860.2:p.Leu176=
ENST00000435122.3:c.436C= ENSP00000415043.2:p.Leu146=
ENST00000462278.1:n.114C=
ENST00000464325.5:n.447C=
ENST00000466779.5:c.*218C= ENSP00000417321.1:n.*218C=
ENST00000466879.5:n.577C=
ENST00000469053.5:c.*218C= ENSP00000418104.1:n.*218C=
ENST00000471671.4:c.526C= ENSP00000418561.1:p.Leu176=
ENST00000479074.5:n.584C=
ENST00000479730.5:n.681C=
ENST00000483041.5:n.695C=
ENST00000486063.5:n.706C=
ENST00000488465.1:n.534C=
NM_000500.7:c.526C= NP_000491.4:p.Leu176=
NM_001128590.3:c.436C= NP_001122062.3:p.Leu146=
XM_011514314.1:c.121C= XP_011512616.1:p.Leu41=
NM_000500.9:c.526C= MANE Select NP_000491.4:p.Leu176=
NM_001368143.1:c.121C= NP_001355072.1:p.Leu41=
NM_001368144.1:c.121C= NP_001355073.1:p.Leu41=
NM_001128590.4:c.436C= NP_001122062.3:p.Leu146=
NM_001368143.2:c.121C= NP_001355072.1:p.Leu41=
NM_001368144.2:c.121C= NP_001355073.1:p.Leu41=