Canonical Allele Identifier: CA363505871
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040027G>A , CM000668.2:g.32040027G>A GRCh38
NC_000006.11:g.32007804G>A , CM000668.1:g.32007804G>A GRCh37
NC_000006.10:g.32115783G>A NCBI36
NG_007941.2:g.6720G>A
NG_008337.2:g.74348C>T
NG_007941.3:g.6723G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.761G>A MANE Select ENSP00000496625.1:p.Trp254Ter
ENST00000418967.6:c.761G>A ENSP00000408860.2:p.Trp254Ter
ENST00000435122.3:c.671G>A ENSP00000415043.2:p.Trp224Ter
ENST00000479074.5:n.819G>A
ENST00000479730.5:n.877G>A
ENST00000483041.5:n.930G>A
ENST00000486063.5:n.918+192G>A
NM_000500.7:c.761G>A NP_000491.4:p.Trp254Ter
NM_001128590.3:c.671G>A NP_001122062.3:p.Trp224Ter
XM_011514314.1:c.356G>A XP_011512616.1:p.Trp119Ter
NM_000500.9:c.761G>A MANE Select NP_000491.4:p.Trp254Ter
NM_001368143.1:c.356G>A NP_001355072.1:p.Trp119Ter
NM_001368144.1:c.356G>A NP_001355073.1:p.Trp119Ter
NM_001128590.4:c.671G>A NP_001122062.3:p.Trp224Ter
NM_001368143.2:c.356G>A NP_001355072.1:p.Trp119Ter
NM_001368144.2:c.356G>A NP_001355073.1:p.Trp119Ter