Canonical Allele Identifier: CA1619396929
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039382T= , CM000668.2:g.32039382T= GRCh38
NC_000006.11:g.32007159T= , CM000668.1:g.32007159T= GRCh37
NC_000006.10:g.32115138T= NCBI36
NG_007941.2:g.6075T=
NG_008337.2:g.74993A=
NG_007941.3:g.6078T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.474T= MANE Select ENSP00000496625.1:p.Pro158=
ENST00000418967.6:c.474T= ENSP00000408860.2:p.Pro158=
ENST00000435122.3:c.384T= ENSP00000415043.2:p.Pro128=
ENST00000462278.1:n.62T=
ENST00000464325.5:n.395T=
ENST00000466779.5:c.*166T= ENSP00000417321.1:n.*166T=
ENST00000466879.5:n.525T=
ENST00000469053.5:c.*166T= ENSP00000418104.1:n.*166T=
ENST00000471671.4:c.474T= ENSP00000418561.1:p.Pro158=
ENST00000478281.5:c.507T= ENSP00000419572.1:p.Pro169=
ENST00000479074.5:n.532T=
ENST00000479730.5:n.629T=
ENST00000483041.5:n.643T=
ENST00000486063.5:n.654T=
ENST00000488465.1:n.482T=
NM_000500.7:c.474T= NP_000491.4:p.Pro158=
NM_001128590.3:c.384T= NP_001122062.3:p.Pro128=
XM_011514314.1:c.69T= XP_011512616.1:p.Pro23=
NM_000500.9:c.474T= MANE Select NP_000491.4:p.Pro158=
NM_001368143.1:c.69T= NP_001355072.1:p.Pro23=
NM_001368144.1:c.69T= NP_001355073.1:p.Pro23=
NM_001128590.4:c.384T= NP_001122062.3:p.Pro128=
NM_001368143.2:c.69T= NP_001355072.1:p.Pro23=
NM_001368144.2:c.69T= NP_001355073.1:p.Pro23=