Canonical Allele Identifier: CA1619396531
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038796C= , CM000668.2:g.32038796C= GRCh38
NC_000006.11:g.32006573C= , CM000668.1:g.32006573C= GRCh37
NC_000006.10:g.32114552C= NCBI36
NG_007941.2:g.5489C=
NG_007941.3:g.5492C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.277C= MANE Select ENSP00000496625.1:p.Pro93=
ENST00000418967.6:c.277C= ENSP00000408860.2:p.Pro93=
ENST00000435122.3:c.202+172C= ENSP00000415043.2:n.202+172C=
ENST00000464325.5:n.214C=
ENST00000466779.5:c.277C= ENSP00000417321.1:p.Pro93=
ENST00000466879.5:n.46C=
ENST00000469053.5:c.202+172C= ENSP00000418104.1:n.202+172C=
ENST00000471671.4:c.277C= ENSP00000418561.1:p.Pro93=
ENST00000478281.5:c.277C= ENSP00000419572.1:p.Pro93=
ENST00000479074.5:n.335C=
ENST00000479730.5:n.432C=
ENST00000480027.1:n.330C=
ENST00000483041.5:n.427C=
ENST00000486063.5:n.457C=
ENST00000488465.1:n.285C=
NM_000500.7:c.277C= NP_000491.4:p.Pro93=
NM_001128590.3:c.202+172C= NP_001122062.3:n.202+172C=
XM_011514314.1:c.-148C= XP_011512616.1:n.-148C=
NM_000500.9:c.277C= MANE Select NP_000491.4:p.Pro93=
NM_001368143.1:c.-148C= NP_001355072.1:n.-148C=
NM_001368144.1:c.-133+172C= NP_001355073.1:n.-133+172C=
NM_001128590.4:c.202+172C= NP_001122062.3:n.202+172C=
NM_001368143.2:c.-148C= NP_001355072.1:n.-148C=
NM_001368144.2:c.-133+172C= NP_001355073.1:n.-133+172C=