Canonical Allele Identifier: CA1619399627
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041054G= , CM000668.2:g.32041054G= GRCh38
NC_000006.11:g.32008831G= , CM000668.1:g.32008831G= GRCh37
NC_000006.10:g.32116810G= NCBI36
NG_007941.2:g.7747G=
NG_008337.2:g.73321C=
NG_007941.3:g.7750G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1408G= MANE Select ENSP00000496625.1:p.Val470=
ENST00000418967.6:c.1408G= ENSP00000408860.2:p.Val470=
ENST00000435122.3:c.1318G= ENSP00000415043.2:p.Val440=
ENST00000479074.5:n.1549G=
ENST00000479730.5:n.1524G=
ENST00000483041.5:n.1577G=
ENST00000486063.5:n.1387G=
NM_000500.7:c.1408G= NP_000491.4:p.Val470=
NM_001128590.3:c.1318G= NP_001122062.3:p.Val440=
XM_011514314.1:c.1003G= XP_011512616.1:p.Val335=
NM_000500.9:c.1408G= MANE Select NP_000491.4:p.Val470=
NM_001368143.1:c.1003G= NP_001355072.1:p.Val335=
NM_001368144.1:c.1003G= NP_001355073.1:p.Val335=
NM_001128590.4:c.1318G= NP_001122062.3:p.Val440=
NM_001368143.2:c.1003G= NP_001355072.1:p.Val335=
NM_001368144.2:c.1003G= NP_001355073.1:p.Val335=