Canonical Allele Identifier: CA363499533
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038619T>G , CM000668.2:g.32038619T>G GRCh38
NC_000006.11:g.32006396T>G , CM000668.1:g.32006396T>G GRCh37
NC_000006.10:g.32114375T>G NCBI36
NG_007941.2:g.5312T>G
NG_007941.3:g.5315T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.197T>G MANE Select ENSP00000496625.1:p.Leu66Arg
ENST00000418967.6:c.197T>G ENSP00000408860.2:p.Leu66Arg
ENST00000435122.3:c.197T>G ENSP00000415043.2:p.Leu66Arg
ENST00000464325.5:n.37T>G
ENST00000466779.5:c.197T>G ENSP00000417321.1:p.Leu66Arg
ENST00000469053.5:c.197T>G ENSP00000418104.1:p.Leu66Arg
ENST00000471671.4:c.197T>G ENSP00000418561.1:p.Leu66Arg
ENST00000478281.5:c.197T>G ENSP00000419572.1:p.Leu66Arg
ENST00000479074.5:n.255T>G
ENST00000479730.5:n.255T>G
ENST00000480027.1:n.250T>G
ENST00000483041.5:n.250T>G
ENST00000486063.5:n.280T>G
ENST00000488465.1:n.205T>G
NM_000500.7:c.197T>G NP_000491.4:p.Leu66Arg
NM_001128590.3:c.197T>G NP_001122062.3:p.Leu66Arg
XM_011514314.1:c.-228T>G XP_011512616.1:n.-228T>G
NM_000500.9:c.197T>G MANE Select NP_000491.4:p.Leu66Arg
NM_001368143.1:c.-228T>G NP_001355072.1:n.-228T>G
NM_001368144.1:c.-138T>G NP_001355073.1:n.-138T>G
NM_001128590.4:c.197T>G NP_001122062.3:p.Leu66Arg
NM_001368143.2:c.-228T>G NP_001355072.1:n.-228T>G
NM_001368144.2:c.-138T>G NP_001355073.1:n.-138T>G