Canonical Allele Identifier: CA1619399532
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040977C= , CM000668.2:g.32040977C= GRCh38
NC_000006.11:g.32008754C= , CM000668.1:g.32008754C= GRCh37
NC_000006.10:g.32116733C= NCBI36
NG_007941.2:g.7670C=
NG_008337.2:g.73398G=
NG_007941.3:g.7673C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1331C= MANE Select ENSP00000496625.1:p.Thr444=
ENST00000418967.6:c.1331C= ENSP00000408860.2:p.Thr444=
ENST00000435122.3:c.1241C= ENSP00000415043.2:p.Thr414=
ENST00000479074.5:n.1472C=
ENST00000479730.5:n.1447C=
ENST00000483041.5:n.1500C=
ENST00000486063.5:n.1310C=
NM_000500.7:c.1331C= NP_000491.4:p.Thr444=
NM_001128590.3:c.1241C= NP_001122062.3:p.Thr414=
XM_011514314.1:c.926C= XP_011512616.1:p.Thr309=
NM_000500.9:c.1331C= MANE Select NP_000491.4:p.Thr444=
NM_001368143.1:c.926C= NP_001355072.1:p.Thr309=
NM_001368144.1:c.926C= NP_001355073.1:p.Thr309=
NM_001128590.4:c.1241C= NP_001122062.3:p.Thr414=
NM_001368143.2:c.926C= NP_001355072.1:p.Thr309=
NM_001368144.2:c.926C= NP_001355073.1:p.Thr309=