Canonical Allele Identifier: CA1619397321
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040116A= , CM000668.2:g.32040116A= GRCh38
NC_000006.11:g.32007893A= , CM000668.1:g.32007893A= GRCh37
NC_000006.10:g.32115872A= NCBI36
NG_007941.2:g.6809A=
NG_008337.2:g.74259T=
NG_007941.3:g.6812A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.850A= MANE Select ENSP00000496625.1:p.Met284=
ENST00000418967.6:c.850A= ENSP00000408860.2:p.Met284=
ENST00000435122.3:c.760A= ENSP00000415043.2:p.Met254=
ENST00000479074.5:n.908A=
ENST00000479730.5:n.966A=
ENST00000483041.5:n.1019A=
ENST00000486063.5:n.918+281A=
NM_000500.7:c.850A= NP_000491.4:p.Met284=
NM_001128590.3:c.760A= NP_001122062.3:p.Met254=
XM_011514314.1:c.445A= XP_011512616.1:p.Met149=
NM_000500.9:c.850A= MANE Select NP_000491.4:p.Met284=
NM_001368143.1:c.445A= NP_001355072.1:p.Met149=
NM_001368144.1:c.445A= NP_001355073.1:p.Met149=
NM_001128590.4:c.760A= NP_001122062.3:p.Met254=
NM_001368143.2:c.445A= NP_001355072.1:p.Met149=
NM_001368144.2:c.445A= NP_001355073.1:p.Met149=