Canonical Allele Identifier: CA1619397100
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039678T= , CM000668.2:g.32039678T= GRCh38
NC_000006.11:g.32007455T= , CM000668.1:g.32007455T= GRCh37
NC_000006.10:g.32115434T= NCBI36
NG_007941.2:g.6371T=
NG_008337.2:g.74697A=
NG_007941.3:g.6374T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.651+31T= MANE Select ENSP00000496625.1:n.651+31T=
ENST00000418967.6:c.651+31T= ENSP00000408860.2:n.651+31T=
ENST00000435122.3:c.561+31T= ENSP00000415043.2:n.561+31T=
ENST00000462278.1:n.270T=
ENST00000464325.5:n.572+31T=
ENST00000466779.5:c.*343+31T= ENSP00000417321.1:n.*343+31T=
ENST00000466879.5:n.702+31T=
ENST00000479074.5:n.709+31T=
ENST00000479730.5:n.767+31T=
ENST00000483041.5:n.820+31T=
ENST00000486063.5:n.831+31T=
NM_000500.7:c.651+31T= NP_000491.4:n.651+31T=
NM_001128590.3:c.561+31T= NP_001122062.3:n.561+31T=
XM_011514314.1:c.246+31T= XP_011512616.1:n.246+31T=
NM_000500.9:c.651+31T= MANE Select NP_000491.4:n.651+31T=
NM_001368143.1:c.246+31T= NP_001355072.1:n.246+31T=
NM_001368144.1:c.246+31T= NP_001355073.1:n.246+31T=
NM_001128590.4:c.561+31T= NP_001122062.3:n.561+31T=
NM_001368143.2:c.246+31T= NP_001355072.1:n.246+31T=
NM_001368144.2:c.246+31T= NP_001355073.1:n.246+31T=