Canonical Allele Identifier: CA363504623
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039759A>T , CM000668.2:g.32039759A>T GRCh38
NC_000006.11:g.32007536A>T , CM000668.1:g.32007536A>T GRCh37
NC_000006.10:g.32115515A>T NCBI36
NG_007941.2:g.6452A>T
NG_008337.2:g.74616T>A
NG_007941.3:g.6455A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.662A>T MANE Select ENSP00000496625.1:p.Asn221Ile
ENST00000418967.6:c.662A>T ENSP00000408860.2:p.Asn221Ile
ENST00000435122.3:c.572A>T ENSP00000415043.2:p.Asn191Ile
ENST00000462278.1:n.351A>T
ENST00000466779.5:c.*354A>T ENSP00000417321.1:n.*354A>T
ENST00000466879.5:n.713A>T
ENST00000479074.5:n.720A>T
ENST00000479730.5:n.778A>T
ENST00000483041.5:n.831A>T
ENST00000486063.5:n.842A>T
NM_000500.7:c.662A>T NP_000491.4:p.Asn221Ile
NM_001128590.3:c.572A>T NP_001122062.3:p.Asn191Ile
XM_011514314.1:c.257A>T XP_011512616.1:p.Asn86Ile
NM_000500.9:c.662A>T MANE Select NP_000491.4:p.Asn221Ile
NM_001368143.1:c.257A>T NP_001355072.1:p.Asn86Ile
NM_001368144.1:c.257A>T NP_001355073.1:p.Asn86Ile
NM_001128590.4:c.572A>T NP_001122062.3:p.Asn191Ile
NM_001368143.2:c.257A>T NP_001355072.1:p.Asn86Ile
NM_001368144.2:c.257A>T NP_001355073.1:p.Asn86Ile