Canonical Allele Identifier: CA1619397150
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039768T= , CM000668.2:g.32039768T= GRCh38
NC_000006.11:g.32007545T= , CM000668.1:g.32007545T= GRCh37
NC_000006.10:g.32115524T= NCBI36
NG_007941.2:g.6461T=
NG_008337.2:g.74607A=
NG_007941.3:g.6464T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.671T= MANE Select ENSP00000496625.1:p.Leu224=
ENST00000418967.6:c.671T= ENSP00000408860.2:p.Leu224=
ENST00000435122.3:c.581T= ENSP00000415043.2:p.Leu194=
ENST00000462278.1:n.360T=
ENST00000466779.5:c.*363T= ENSP00000417321.1:n.*363T=
ENST00000466879.5:n.722T=
ENST00000479074.5:n.729T=
ENST00000479730.5:n.787T=
ENST00000483041.5:n.840T=
ENST00000486063.5:n.851T=
NM_000500.7:c.671T= NP_000491.4:p.Leu224=
NM_001128590.3:c.581T= NP_001122062.3:p.Leu194=
XM_011514314.1:c.266T= XP_011512616.1:p.Leu89=
NM_000500.9:c.671T= MANE Select NP_000491.4:p.Leu224=
NM_001368143.1:c.266T= NP_001355072.1:p.Leu89=
NM_001368144.1:c.266T= NP_001355073.1:p.Leu89=
NM_001128590.4:c.581T= NP_001122062.3:p.Leu194=
NM_001368143.2:c.266T= NP_001355072.1:p.Leu89=
NM_001368144.2:c.266T= NP_001355073.1:p.Leu89=