Canonical Allele Identifier: CA1619397148
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039766T= , CM000668.2:g.32039766T= GRCh38
NC_000006.11:g.32007543T= , CM000668.1:g.32007543T= GRCh37
NC_000006.10:g.32115522T= NCBI36
NG_007941.2:g.6459T=
NG_008337.2:g.74609A=
NG_007941.3:g.6462T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.669T= MANE Select ENSP00000496625.1:p.Gly223=
ENST00000418967.6:c.669T= ENSP00000408860.2:p.Gly223=
ENST00000435122.3:c.579T= ENSP00000415043.2:p.Gly193=
ENST00000462278.1:n.358T=
ENST00000466779.5:c.*361T= ENSP00000417321.1:n.*361T=
ENST00000466879.5:n.720T=
ENST00000479074.5:n.727T=
ENST00000479730.5:n.785T=
ENST00000483041.5:n.838T=
ENST00000486063.5:n.849T=
NM_000500.7:c.669T= NP_000491.4:p.Gly223=
NM_001128590.3:c.579T= NP_001122062.3:p.Gly193=
XM_011514314.1:c.264T= XP_011512616.1:p.Gly88=
NM_000500.9:c.669T= MANE Select NP_000491.4:p.Gly223=
NM_001368143.1:c.264T= NP_001355072.1:p.Gly88=
NM_001368144.1:c.264T= NP_001355073.1:p.Gly88=
NM_001128590.4:c.579T= NP_001122062.3:p.Gly193=
NM_001368143.2:c.264T= NP_001355072.1:p.Gly88=
NM_001368144.2:c.264T= NP_001355073.1:p.Gly88=