Canonical Allele Identifier: CA1619397176
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039815A= , CM000668.2:g.32039815A= GRCh38
NC_000006.11:g.32007592A= , CM000668.1:g.32007592A= GRCh37
NC_000006.10:g.32115571A= NCBI36
NG_007941.2:g.6508A=
NG_008337.2:g.74560T=
NG_007941.3:g.6511A=

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.718A= MANE Select ENSP00000496625.1:p.Met240=
ENST00000418967.6:c.718A= ENSP00000408860.2:p.Met240=
ENST00000435122.3:c.628A= ENSP00000415043.2:p.Met210=
ENST00000462278.1:n.407A=
ENST00000466779.5:c.*410A= ENSP00000417321.1:n.*410A=
ENST00000466879.5:n.769A=
ENST00000479074.5:n.776A=
ENST00000479730.5:n.834A=
ENST00000483041.5:n.887A=
ENST00000486063.5:n.898A=
NM_000500.7:c.718A= NP_000491.4:p.Met240=
NM_001128590.3:c.628A= NP_001122062.3:p.Met210=
XM_011514314.1:c.313A= XP_011512616.1:p.Met105=
NM_000500.9:c.718A= MANE Select NP_000491.4:p.Met240=
NM_001368143.1:c.313A= NP_001355072.1:p.Met105=
NM_001368144.1:c.313A= NP_001355073.1:p.Met105=
NM_001128590.4:c.628A= NP_001122062.3:p.Met210=
NM_001368143.2:c.313A= NP_001355072.1:p.Met105=
NM_001368144.2:c.313A= NP_001355073.1:p.Met105=