Canonical Allele Identifier: CA1619396926
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039373C= , CM000668.2:g.32039373C= GRCh38
NC_000006.11:g.32007150C= , CM000668.1:g.32007150C= GRCh37
NC_000006.10:g.32115129C= NCBI36
NG_007941.2:g.6066C=
NG_008337.2:g.75002G=
NG_007941.3:g.6069C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.465C= MANE Select ENSP00000496625.1:p.Pro155=
ENST00000418967.6:c.465C= ENSP00000408860.2:p.Pro155=
ENST00000435122.3:c.375C= ENSP00000415043.2:p.Pro125=
ENST00000462278.1:n.53C=
ENST00000464325.5:n.386C=
ENST00000466779.5:c.*157C= ENSP00000417321.1:n.*157C=
ENST00000466879.5:n.516C=
ENST00000469053.5:c.*157C= ENSP00000418104.1:n.*157C=
ENST00000471671.4:c.465C= ENSP00000418561.1:p.Pro155=
ENST00000478281.5:c.498C= ENSP00000419572.1:p.Pro166=
ENST00000479074.5:n.523C=
ENST00000479730.5:n.620C=
ENST00000483041.5:n.634C=
ENST00000486063.5:n.645C=
ENST00000488465.1:n.473C=
NM_000500.7:c.465C= NP_000491.4:p.Pro155=
NM_001128590.3:c.375C= NP_001122062.3:p.Pro125=
XM_011514314.1:c.60C= XP_011512616.1:p.Pro20=
NM_000500.9:c.465C= MANE Select NP_000491.4:p.Pro155=
NM_001368143.1:c.60C= NP_001355072.1:p.Pro20=
NM_001368144.1:c.60C= NP_001355073.1:p.Pro20=
NM_001128590.4:c.375C= NP_001122062.3:p.Pro125=
NM_001368143.2:c.60C= NP_001355072.1:p.Pro20=
NM_001368144.2:c.60C= NP_001355073.1:p.Pro20=