Canonical Allele Identifier: CA1619397235
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039918T= , CM000668.2:g.32039918T= GRCh38
NC_000006.11:g.32007695T= , CM000668.1:g.32007695T= GRCh37
NC_000006.10:g.32115674T= NCBI36
NG_007941.2:g.6611T=
NG_008337.2:g.74457A=
NG_007941.3:g.6614T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.738+83T= MANE Select ENSP00000496625.1:n.738+83T=
ENST00000418967.6:c.738+83T= ENSP00000408860.2:n.738+83T=
ENST00000435122.3:c.648+83T= ENSP00000415043.2:n.648+83T=
ENST00000462278.1:n.510T=
ENST00000479074.5:n.796+83T=
ENST00000479730.5:n.854+83T=
ENST00000483041.5:n.907+83T=
ENST00000486063.5:n.918+83T=
NM_000500.7:c.738+83T= NP_000491.4:n.738+83T=
NM_001128590.3:c.648+83T= NP_001122062.3:n.648+83T=
XM_011514314.1:c.333+83T= XP_011512616.1:n.333+83T=
NM_000500.9:c.738+83T= MANE Select NP_000491.4:n.738+83T=
NM_001368143.1:c.333+83T= NP_001355072.1:n.333+83T=
NM_001368144.1:c.333+83T= NP_001355073.1:n.333+83T=
NM_001128590.4:c.648+83T= NP_001122062.3:n.648+83T=
NM_001368143.2:c.333+83T= NP_001355072.1:n.333+83T=
NM_001368144.2:c.333+83T= NP_001355073.1:n.333+83T=