Canonical Allele Identifier: CA449729877
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040184-T-A
MyVariant Identifiers: chr6:g.32007961T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040184T>A , CM000668.2:g.32040184T>A GRCh38
NC_000006.11:g.32007961T>A , CM000668.1:g.32007961T>A GRCh37
NC_000006.10:g.32115940T>A NCBI36
NG_007941.2:g.6877T>A
NG_008337.2:g.74191A>T
NG_007941.3:g.6880T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.918T>A MANE Select ENSP00000496625.1:p.Val306=
ENST00000418967.6:c.918T>A ENSP00000408860.2:p.Val306=
ENST00000435122.3:c.828T>A ENSP00000415043.2:p.Val276=
ENST00000479074.5:n.976T>A
ENST00000479730.5:n.1034T>A
ENST00000483041.5:n.1087T>A
ENST00000486063.5:n.919-222T>A
NM_000500.7:c.918T>A NP_000491.4:p.Val306=
NM_001128590.3:c.828T>A NP_001122062.3:p.Val276=
XM_011514314.1:c.513T>A XP_011512616.1:p.Val171=
NM_000500.9:c.918T>A MANE Select NP_000491.4:p.Val306=
NM_001368143.1:c.513T>A NP_001355072.1:p.Val171=
NM_001368144.1:c.513T>A NP_001355073.1:p.Val171=
NM_001128590.4:c.828T>A NP_001122062.3:p.Val276=
NM_001368143.2:c.513T>A NP_001355072.1:p.Val171=
NM_001368144.2:c.513T>A NP_001355073.1:p.Val171=