Canonical Allele Identifier: CA363500647
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039091C>G , CM000668.2:g.32039091C>G GRCh38
NC_000006.11:g.32006868C>G , CM000668.1:g.32006868C>G GRCh37
NC_000006.10:g.32114847C>G NCBI36
NG_007941.2:g.5784C>G
NG_007941.3:g.5787C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-3C>G MANE Select ENSP00000496625.1:n.293-3C>G
ENST00000418967.6:c.293-3C>G ENSP00000408860.2:n.293-3C>G
ENST00000435122.3:c.203-3C>G ENSP00000415043.2:n.203-3C>G
ENST00000464325.5:n.230-19C>G
ENST00000466779.5:c.309C>G ENSP00000417321.1:p.Cys103Trp
ENST00000466879.5:n.341C>G
ENST00000469053.5:c.219C>G ENSP00000418104.1:p.Cys73Trp
ENST00000471671.4:c.293-3C>G ENSP00000418561.1:n.293-3C>G
ENST00000478281.5:c.323C>G ENSP00000419572.1:p.Ala108Gly
ENST00000479074.5:n.351-3C>G
ENST00000479730.5:n.448-3C>G
ENST00000480027.1:n.625C>G
ENST00000483041.5:n.459C>G
ENST00000486063.5:n.473-3C>G
ENST00000488465.1:n.301-3C>G
NM_000500.7:c.293-3C>G NP_000491.4:n.293-3C>G
NM_001128590.3:c.203-3C>G NP_001122062.3:n.203-3C>G
XM_011514314.1:c.-116C>G XP_011512616.1:n.-116C>G
NM_000500.9:c.293-3C>G MANE Select NP_000491.4:n.293-3C>G
NM_001368143.1:c.-116C>G NP_001355072.1:n.-116C>G
NM_001368144.1:c.-116C>G NP_001355073.1:n.-116C>G
NM_001128590.4:c.203-3C>G NP_001122062.3:n.203-3C>G
NM_001368143.2:c.-116C>G NP_001355072.1:n.-116C>G
NM_001368144.2:c.-116C>G NP_001355073.1:n.-116C>G