Canonical Allele Identifier: CA1619397455
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040406A= , CM000668.2:g.32040406A= GRCh38
NC_000006.11:g.32008183A= , CM000668.1:g.32008183A= GRCh37
NC_000006.10:g.32116162A= NCBI36
NG_007941.2:g.7099A=
NG_008337.2:g.73969T=
NG_007941.3:g.7102A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.940A= MANE Select ENSP00000496625.1:p.Ile314=
ENST00000418967.6:c.940A= ENSP00000408860.2:p.Ile314=
ENST00000435122.3:c.850A= ENSP00000415043.2:p.Ile284=
ENST00000479074.5:n.998A=
ENST00000479730.5:n.1056A=
ENST00000483041.5:n.1109A=
ENST00000486063.5:n.919A=
NM_000500.7:c.940A= NP_000491.4:p.Ile314=
NM_001128590.3:c.850A= NP_001122062.3:p.Ile284=
XM_011514314.1:c.535A= XP_011512616.1:p.Ile179=
NM_000500.9:c.940A= MANE Select NP_000491.4:p.Ile314=
NM_001368143.1:c.535A= NP_001355072.1:p.Ile179=
NM_001368144.1:c.535A= NP_001355073.1:p.Ile179=
NM_001128590.4:c.850A= NP_001122062.3:p.Ile284=
NM_001368143.2:c.535A= NP_001355072.1:p.Ile179=
NM_001368144.2:c.535A= NP_001355073.1:p.Ile179=