Canonical Allele Identifier: CA1619397210
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039875C= , CM000668.2:g.32039875C= GRCh38
NC_000006.11:g.32007652C= , CM000668.1:g.32007652C= GRCh37
NC_000006.10:g.32115631C= NCBI36
NG_007941.2:g.6568C=
NG_008337.2:g.74500G=
NG_007941.3:g.6571C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.738+40C= MANE Select ENSP00000496625.1:n.738+40C=
ENST00000418967.6:c.738+40C= ENSP00000408860.2:n.738+40C=
ENST00000435122.3:c.648+40C= ENSP00000415043.2:n.648+40C=
ENST00000462278.1:n.467C=
ENST00000479074.5:n.796+40C=
ENST00000479730.5:n.854+40C=
ENST00000483041.5:n.907+40C=
ENST00000486063.5:n.918+40C=
NM_000500.7:c.738+40C= NP_000491.4:n.738+40C=
NM_001128590.3:c.648+40C= NP_001122062.3:n.648+40C=
XM_011514314.1:c.333+40C= XP_011512616.1:n.333+40C=
NM_000500.9:c.738+40C= MANE Select NP_000491.4:n.738+40C=
NM_001368143.1:c.333+40C= NP_001355072.1:n.333+40C=
NM_001368144.1:c.333+40C= NP_001355073.1:n.333+40C=
NM_001128590.4:c.648+40C= NP_001122062.3:n.648+40C=
NM_001368143.2:c.333+40C= NP_001355072.1:n.333+40C=
NM_001368144.2:c.333+40C= NP_001355073.1:n.333+40C=