Canonical Allele Identifier: CA449819081
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32041011-C-A
MyVariant Identifiers: chr6:g.32008788C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041011C>A , CM000668.2:g.32041011C>A GRCh38
NC_000006.11:g.32008788C>A , CM000668.1:g.32008788C>A GRCh37
NC_000006.10:g.32116767C>A NCBI36
NG_007941.2:g.7704C>A
NG_008337.2:g.73364G>T
NG_007941.3:g.7707C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1365C>A MANE Select ENSP00000496625.1:p.Ser455=
ENST00000418967.6:c.1365C>A ENSP00000408860.2:p.Ser455=
ENST00000435122.3:c.1275C>A ENSP00000415043.2:p.Ser425=
ENST00000479074.5:n.1506C>A
ENST00000479730.5:n.1481C>A
ENST00000483041.5:n.1534C>A
ENST00000486063.5:n.1344C>A
NM_000500.7:c.1365C>A NP_000491.4:p.Ser455=
NM_001128590.3:c.1275C>A NP_001122062.3:p.Ser425=
XM_011514314.1:c.960C>A XP_011512616.1:p.Ser320=
NM_000500.9:c.1365C>A MANE Select NP_000491.4:p.Ser455=
NM_001368143.1:c.960C>A NP_001355072.1:p.Ser320=
NM_001368144.1:c.960C>A NP_001355073.1:p.Ser320=
NM_001128590.4:c.1275C>A NP_001122062.3:p.Ser425=
NM_001368143.2:c.960C>A NP_001355072.1:p.Ser320=
NM_001368144.2:c.960C>A NP_001355073.1:p.Ser320=