Canonical Allele Identifier: CA363507536
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040191C>A , CM000668.2:g.32040191C>A GRCh38
NC_000006.11:g.32007968C>A , CM000668.1:g.32007968C>A GRCh37
NC_000006.10:g.32115947C>A NCBI36
NG_007941.2:g.6884C>A
NG_008337.2:g.74184G>T
NG_007941.3:g.6887C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.925C>A MANE Select ENSP00000496625.1:p.Leu309Ile
ENST00000418967.6:c.925C>A ENSP00000408860.2:p.Leu309Ile
ENST00000435122.3:c.835C>A ENSP00000415043.2:p.Leu279Ile
ENST00000479074.5:n.983C>A
ENST00000479730.5:n.1041C>A
ENST00000483041.5:n.1094C>A
ENST00000486063.5:n.919-215C>A
NM_000500.7:c.925C>A NP_000491.4:p.Leu309Ile
NM_001128590.3:c.835C>A NP_001122062.3:p.Leu279Ile
XM_011514314.1:c.520C>A XP_011512616.1:p.Leu174Ile
NM_000500.9:c.925C>A MANE Select NP_000491.4:p.Leu309Ile
NM_001368143.1:c.520C>A NP_001355072.1:p.Leu174Ile
NM_001368144.1:c.520C>A NP_001355073.1:p.Leu174Ile
NM_001128590.4:c.835C>A NP_001122062.3:p.Leu279Ile
NM_001368143.2:c.520C>A NP_001355072.1:p.Leu174Ile
NM_001368144.2:c.520C>A NP_001355073.1:p.Leu174Ile