Canonical Allele Identifier: CA1619399817
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041151C= , CM000668.2:g.32041151C= GRCh38
NC_000006.11:g.32008928C= , CM000668.1:g.32008928C= GRCh37
NC_000006.10:g.32116907C= NCBI36
NG_007941.2:g.7844C=
NG_008337.2:g.73224G=
NG_007941.3:g.7847C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.*17C= MANE Select ENSP00000496625.1:n.*17C=
ENST00000418967.6:c.*17C= ENSP00000408860.2:n.*17C=
ENST00000435122.3:c.*17C= ENSP00000415043.2:n.*17C=
ENST00000479074.5:n.1646C=
ENST00000479730.5:n.1621C=
ENST00000483041.5:n.1674C=
ENST00000486063.5:n.1484C=
NM_000500.7:c.*17C= NP_000491.4:n.*17C=
NM_001128590.3:c.*17C= NP_001122062.3:n.*17C=
XM_011514314.1:c.*17C= XP_011512616.1:n.*17C=
NM_000500.9:c.*17C= MANE Select NP_000491.4:n.*17C=
NM_001368143.1:c.*17C= NP_001355072.1:n.*17C=
NM_001368144.1:c.*17C= NP_001355073.1:n.*17C=
NM_001128590.4:c.*17C= NP_001122062.3:n.*17C=
NM_001368143.2:c.*17C= NP_001355072.1:n.*17C=
NM_001368144.2:c.*17C= NP_001355073.1:n.*17C=