Canonical Allele Identifier: CA363511977
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040933C>A , CM000668.2:g.32040933C>A GRCh38
NC_000006.11:g.32008710C>A , CM000668.1:g.32008710C>A GRCh37
NC_000006.10:g.32116689C>A NCBI36
NG_007941.2:g.7626C>A
NG_008337.2:g.73442G>T
NG_007941.3:g.7629C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1287C>A MANE Select ENSP00000496625.1:p.Cys429Ter
ENST00000418967.6:c.1287C>A ENSP00000408860.2:p.Cys429Ter
ENST00000435122.3:c.1197C>A ENSP00000415043.2:p.Cys399Ter
ENST00000479074.5:n.1428C>A
ENST00000479730.5:n.1403C>A
ENST00000483041.5:n.1456C>A
ENST00000486063.5:n.1266C>A
NM_000500.7:c.1287C>A NP_000491.4:p.Cys429Ter
NM_001128590.3:c.1197C>A NP_001122062.3:p.Cys399Ter
XM_011514314.1:c.882C>A XP_011512616.1:p.Cys294Ter
NM_000500.9:c.1287C>A MANE Select NP_000491.4:p.Cys429Ter
NM_001368143.1:c.882C>A NP_001355072.1:p.Cys294Ter
NM_001368144.1:c.882C>A NP_001355073.1:p.Cys294Ter
NM_001128590.4:c.1197C>A NP_001122062.3:p.Cys399Ter
NM_001368143.2:c.882C>A NP_001355072.1:p.Cys294Ter
NM_001368144.2:c.882C>A NP_001355073.1:p.Cys294Ter