Canonical Allele Identifier: CA1619397170
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039808C= , CM000668.2:g.32039808C= GRCh38
NC_000006.11:g.32007585C= , CM000668.1:g.32007585C= GRCh37
NC_000006.10:g.32115564C= NCBI36
NG_007941.2:g.6501C=
NG_008337.2:g.74567G=
NG_007941.3:g.6504C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.711C= MANE Select ENSP00000496625.1:p.Ile237=
ENST00000418967.6:c.711C= ENSP00000408860.2:p.Ile237=
ENST00000435122.3:c.621C= ENSP00000415043.2:p.Ile207=
ENST00000462278.1:n.400C=
ENST00000466779.5:c.*403C= ENSP00000417321.1:n.*403C=
ENST00000466879.5:n.762C=
ENST00000479074.5:n.769C=
ENST00000479730.5:n.827C=
ENST00000483041.5:n.880C=
ENST00000486063.5:n.891C=
NM_000500.7:c.711C= NP_000491.4:p.Ile237=
NM_001128590.3:c.621C= NP_001122062.3:p.Ile207=
XM_011514314.1:c.306C= XP_011512616.1:p.Ile102=
NM_000500.9:c.711C= MANE Select NP_000491.4:p.Ile237=
NM_001368143.1:c.306C= NP_001355072.1:p.Ile102=
NM_001368144.1:c.306C= NP_001355073.1:p.Ile102=
NM_001128590.4:c.621C= NP_001122062.3:p.Ile207=
NM_001368143.2:c.306C= NP_001355072.1:p.Ile102=
NM_001368144.2:c.306C= NP_001355073.1:p.Ile102=