Canonical Allele Identifier: CA1619399799
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041140C= , CM000668.2:g.32041140C= GRCh38
NC_000006.11:g.32008917C= , CM000668.1:g.32008917C= GRCh37
NC_000006.10:g.32116896C= NCBI36
NG_007941.2:g.7833C=
NG_008337.2:g.73235G=
NG_007941.3:g.7836C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.*6C= MANE Select ENSP00000496625.1:n.*6C=
ENST00000418967.6:c.*6C= ENSP00000408860.2:n.*6C=
ENST00000435122.3:c.*6C= ENSP00000415043.2:n.*6C=
ENST00000479074.5:n.1635C=
ENST00000479730.5:n.1610C=
ENST00000483041.5:n.1663C=
ENST00000486063.5:n.1473C=
NM_000500.7:c.*6C= NP_000491.4:n.*6C=
NM_001128590.3:c.*6C= NP_001122062.3:n.*6C=
XM_011514314.1:c.*6C= XP_011512616.1:n.*6C=
NM_000500.9:c.*6C= MANE Select NP_000491.4:n.*6C=
NM_001368143.1:c.*6C= NP_001355072.1:n.*6C=
NM_001368144.1:c.*6C= NP_001355073.1:n.*6C=
NM_001128590.4:c.*6C= NP_001122062.3:n.*6C=
NM_001368143.2:c.*6C= NP_001355072.1:n.*6C=
NM_001368144.2:c.*6C= NP_001355073.1:n.*6C=