Canonical Allele Identifier: CA1619399593
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041032G= , CM000668.2:g.32041032G= GRCh38
NC_000006.11:g.32008809G= , CM000668.1:g.32008809G= GRCh37
NC_000006.10:g.32116788G= NCBI36
NG_007941.2:g.7725G=
NG_008337.2:g.73343C=
NG_007941.3:g.7728G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1386G= MANE Select ENSP00000496625.1:p.Leu462=
ENST00000418967.6:c.1386G= ENSP00000408860.2:p.Leu462=
ENST00000435122.3:c.1296G= ENSP00000415043.2:p.Leu432=
ENST00000479074.5:n.1527G=
ENST00000479730.5:n.1502G=
ENST00000483041.5:n.1555G=
ENST00000486063.5:n.1365G=
NM_000500.7:c.1386G= NP_000491.4:p.Leu462=
NM_001128590.3:c.1296G= NP_001122062.3:p.Leu432=
XM_011514314.1:c.981G= XP_011512616.1:p.Leu327=
NM_000500.9:c.1386G= MANE Select NP_000491.4:p.Leu462=
NM_001368143.1:c.981G= NP_001355072.1:p.Leu327=
NM_001368144.1:c.981G= NP_001355073.1:p.Leu327=
NM_001128590.4:c.1296G= NP_001122062.3:p.Leu432=
NM_001368143.2:c.981G= NP_001355072.1:p.Leu327=
NM_001368144.2:c.981G= NP_001355073.1:p.Leu327=