Canonical Allele Identifier: CA449818936
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040939-C-G
MyVariant Identifiers: chr6:g.32008716C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040939C>G , CM000668.2:g.32040939C>G GRCh38
NC_000006.11:g.32008716C>G , CM000668.1:g.32008716C>G GRCh37
NC_000006.10:g.32116695C>G NCBI36
NG_007941.2:g.7632C>G
NG_008337.2:g.73436G>C
NG_007941.3:g.7635C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1293C>G MANE Select ENSP00000496625.1:p.Gly431=
ENST00000418967.6:c.1293C>G ENSP00000408860.2:p.Gly431=
ENST00000435122.3:c.1203C>G ENSP00000415043.2:p.Gly401=
ENST00000479074.5:n.1434C>G
ENST00000479730.5:n.1409C>G
ENST00000483041.5:n.1462C>G
ENST00000486063.5:n.1272C>G
NM_000500.7:c.1293C>G NP_000491.4:p.Gly431=
NM_001128590.3:c.1203C>G NP_001122062.3:p.Gly401=
XM_011514314.1:c.888C>G XP_011512616.1:p.Gly296=
NM_000500.9:c.1293C>G MANE Select NP_000491.4:p.Gly431=
NM_001368143.1:c.888C>G NP_001355072.1:p.Gly296=
NM_001368144.1:c.888C>G NP_001355073.1:p.Gly296=
NM_001128590.4:c.1203C>G NP_001122062.3:p.Gly401=
NM_001368143.2:c.888C>G NP_001355072.1:p.Gly296=
NM_001368144.2:c.888C>G NP_001355073.1:p.Gly296=