Canonical Allele Identifier: CA1619397094
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039670C= , CM000668.2:g.32039670C= GRCh38
NC_000006.11:g.32007447C= , CM000668.1:g.32007447C= GRCh37
NC_000006.10:g.32115426C= NCBI36
NG_007941.2:g.6363C=
NG_008337.2:g.74705G=
NG_007941.3:g.6366C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.651+23C= MANE Select ENSP00000496625.1:n.651+23C=
ENST00000418967.6:c.651+23C= ENSP00000408860.2:n.651+23C=
ENST00000435122.3:c.561+23C= ENSP00000415043.2:n.561+23C=
ENST00000462278.1:n.262C=
ENST00000464325.5:n.572+23C=
ENST00000466779.5:c.*343+23C= ENSP00000417321.1:n.*343+23C=
ENST00000466879.5:n.702+23C=
ENST00000479074.5:n.709+23C=
ENST00000479730.5:n.767+23C=
ENST00000483041.5:n.820+23C=
ENST00000486063.5:n.831+23C=
NM_000500.7:c.651+23C= NP_000491.4:n.651+23C=
NM_001128590.3:c.561+23C= NP_001122062.3:n.561+23C=
XM_011514314.1:c.246+23C= XP_011512616.1:n.246+23C=
NM_000500.9:c.651+23C= MANE Select NP_000491.4:n.651+23C=
NM_001368143.1:c.246+23C= NP_001355072.1:n.246+23C=
NM_001368144.1:c.246+23C= NP_001355073.1:n.246+23C=
NM_001128590.4:c.561+23C= NP_001122062.3:n.561+23C=
NM_001368143.2:c.246+23C= NP_001355072.1:n.246+23C=
NM_001368144.2:c.246+23C= NP_001355073.1:n.246+23C=