Canonical Allele Identifier: CA1619396924
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039370G= , CM000668.2:g.32039370G= GRCh38
NC_000006.11:g.32007147G= , CM000668.1:g.32007147G= GRCh37
NC_000006.10:g.32115126G= NCBI36
NG_007941.2:g.6063G=
NG_008337.2:g.75005C=
NG_007941.3:g.6066G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.462G= MANE Select ENSP00000496625.1:p.Gln154=
ENST00000418967.6:c.462G= ENSP00000408860.2:p.Gln154=
ENST00000435122.3:c.372G= ENSP00000415043.2:p.Gln124=
ENST00000462278.1:n.50G=
ENST00000464325.5:n.383G=
ENST00000466779.5:c.*154G= ENSP00000417321.1:n.*154G=
ENST00000466879.5:n.513G=
ENST00000469053.5:c.*154G= ENSP00000418104.1:n.*154G=
ENST00000471671.4:c.462G= ENSP00000418561.1:p.Gln154=
ENST00000478281.5:c.495G= ENSP00000419572.1:p.Gln165=
ENST00000479074.5:n.520G=
ENST00000479730.5:n.617G=
ENST00000483041.5:n.631G=
ENST00000486063.5:n.642G=
ENST00000488465.1:n.470G=
NM_000500.7:c.462G= NP_000491.4:p.Gln154=
NM_001128590.3:c.372G= NP_001122062.3:p.Gln124=
XM_011514314.1:c.57G= XP_011512616.1:p.Gln19=
NM_000500.9:c.462G= MANE Select NP_000491.4:p.Gln154=
NM_001368143.1:c.57G= NP_001355072.1:p.Gln19=
NM_001368144.1:c.57G= NP_001355073.1:p.Gln19=
NM_001128590.4:c.372G= NP_001122062.3:p.Gln124=
NM_001368143.2:c.57G= NP_001355072.1:p.Gln19=
NM_001368144.2:c.57G= NP_001355073.1:p.Gln19=