Canonical Allele Identifier: CA1619399371
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040723G= , CM000668.2:g.32040723G= GRCh38
NC_000006.11:g.32008500G= , CM000668.1:g.32008500G= GRCh37
NC_000006.10:g.32116479G= NCBI36
NG_007941.2:g.7416G=
NG_008337.2:g.73652C=
NG_007941.3:g.7419G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1174G= MANE Select ENSP00000496625.1:p.Ala392=
ENST00000418967.6:c.1174G= ENSP00000408860.2:p.Ala392=
ENST00000435122.3:c.1084G= ENSP00000415043.2:p.Ala362=
ENST00000479074.5:n.1315G=
ENST00000479730.5:n.1290G=
ENST00000483041.5:n.1343G=
ENST00000486063.5:n.1153G=
NM_000500.7:c.1174G= NP_000491.4:p.Ala392=
NM_001128590.3:c.1084G= NP_001122062.3:p.Ala362=
XM_011514314.1:c.769G= XP_011512616.1:p.Ala257=
NM_000500.9:c.1174G= MANE Select NP_000491.4:p.Ala392=
NM_001368143.1:c.769G= NP_001355072.1:p.Ala257=
NM_001368144.1:c.769G= NP_001355073.1:p.Ala257=
NM_001128590.4:c.1084G= NP_001122062.3:p.Ala362=
NM_001368143.2:c.769G= NP_001355072.1:p.Ala257=
NM_001368144.2:c.769G= NP_001355073.1:p.Ala257=