Canonical Allele Identifier: CA1619399485
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040891G= , CM000668.2:g.32040891G= GRCh38
NC_000006.11:g.32008668G= , CM000668.1:g.32008668G= GRCh37
NC_000006.10:g.32116647G= NCBI36
NG_007941.2:g.7584G=
NG_008337.2:g.73484C=
NG_007941.3:g.7587G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1245G= MANE Select ENSP00000496625.1:p.Lys415=
ENST00000418967.6:c.1245G= ENSP00000408860.2:p.Lys415=
ENST00000435122.3:c.1155G= ENSP00000415043.2:p.Lys385=
ENST00000479074.5:n.1386G=
ENST00000479730.5:n.1361G=
ENST00000483041.5:n.1414G=
ENST00000486063.5:n.1224G=
NM_000500.7:c.1245G= NP_000491.4:p.Lys415=
NM_001128590.3:c.1155G= NP_001122062.3:p.Lys385=
XM_011514314.1:c.840G= XP_011512616.1:p.Lys280=
NM_000500.9:c.1245G= MANE Select NP_000491.4:p.Lys415=
NM_001368143.1:c.840G= NP_001355072.1:p.Lys280=
NM_001368144.1:c.840G= NP_001355073.1:p.Lys280=
NM_001128590.4:c.1155G= NP_001122062.3:p.Lys385=
NM_001368143.2:c.840G= NP_001355072.1:p.Lys280=
NM_001368144.2:c.840G= NP_001355073.1:p.Lys280=