Canonical Allele Identifier: CA1619397289
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040042A= , CM000668.2:g.32040042A= GRCh38
NC_000006.11:g.32007819A= , CM000668.1:g.32007819A= GRCh37
NC_000006.10:g.32115798A= NCBI36
NG_007941.2:g.6735A=
NG_008337.2:g.74333T=
NG_007941.3:g.6738A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.776A= MANE Select ENSP00000496625.1:p.Asp259=
ENST00000418967.6:c.776A= ENSP00000408860.2:p.Asp259=
ENST00000435122.3:c.686A= ENSP00000415043.2:p.Asp229=
ENST00000479074.5:n.834A=
ENST00000479730.5:n.892A=
ENST00000483041.5:n.945A=
ENST00000486063.5:n.918+207A=
NM_000500.7:c.776A= NP_000491.4:p.Asp259=
NM_001128590.3:c.686A= NP_001122062.3:p.Asp229=
XM_011514314.1:c.371A= XP_011512616.1:p.Asp124=
NM_000500.9:c.776A= MANE Select NP_000491.4:p.Asp259=
NM_001368143.1:c.371A= NP_001355072.1:p.Asp124=
NM_001368144.1:c.371A= NP_001355073.1:p.Asp124=
NM_001128590.4:c.686A= NP_001122062.3:p.Asp229=
NM_001368143.2:c.371A= NP_001355072.1:p.Asp124=
NM_001368144.2:c.371A= NP_001355073.1:p.Asp124=