Canonical Allele Identifier: CA363511656
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040869A>C , CM000668.2:g.32040869A>C GRCh38
NC_000006.11:g.32008646A>C , CM000668.1:g.32008646A>C GRCh37
NC_000006.10:g.32116625A>C NCBI36
NG_007941.2:g.7562A>C
NG_008337.2:g.73506T>G
NG_007941.3:g.7565A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1223A>C MANE Select ENSP00000496625.1:p.Asp408Ala
ENST00000418967.6:c.1223A>C ENSP00000408860.2:p.Asp408Ala
ENST00000435122.3:c.1133A>C ENSP00000415043.2:p.Asp378Ala
ENST00000479074.5:n.1364A>C
ENST00000479730.5:n.1339A>C
ENST00000483041.5:n.1392A>C
ENST00000486063.5:n.1202A>C
NM_000500.7:c.1223A>C NP_000491.4:p.Asp408Ala
NM_001128590.3:c.1133A>C NP_001122062.3:p.Asp378Ala
XM_011514314.1:c.818A>C XP_011512616.1:p.Asp273Ala
NM_000500.9:c.1223A>C MANE Select NP_000491.4:p.Asp408Ala
NM_001368143.1:c.818A>C NP_001355072.1:p.Asp273Ala
NM_001368144.1:c.818A>C NP_001355073.1:p.Asp273Ala
NM_001128590.4:c.1133A>C NP_001122062.3:p.Asp378Ala
NM_001368143.2:c.818A>C NP_001355072.1:p.Asp273Ala
NM_001368144.2:c.818A>C NP_001355073.1:p.Asp273Ala