Canonical Allele Identifier: CA200316
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12183
dbSNP Id: rs9378252

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038610A>T , CM000668.2:g.32038610A>T GRCh38
NC_000006.11:g.32006387A>T , CM000668.1:g.32006387A>T GRCh37
NC_000006.10:g.32114366A>T NCBI36
NG_007941.2:g.5303A>T
NG_007941.3:g.5306A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.188A>T MANE Select ENSP00000496625.1:p.His63Leu
ENST00000418967.6:c.188A>T ENSP00000408860.2:p.His63Leu
ENST00000435122.3:c.188A>T ENSP00000415043.2:p.His63Leu
ENST00000466779.5:c.188A>T ENSP00000417321.1:p.His63Leu
ENST00000469053.5:c.188A>T ENSP00000418104.1:p.His63Leu
ENST00000471671.4:c.188A>T ENSP00000418561.1:p.His63Leu
ENST00000478281.5:c.188A>T ENSP00000419572.1:p.His63Leu
NM_000500.7:c.188A>T NP_000491.4:p.His63Leu
NM_001128590.3:c.188A>T NP_001122062.3:p.His63Leu
XM_011514314.1:c.-237A>T XP_011512616.1:p.=
NM_000500.9:c.188A>T MANE Select NP_000491.4:p.His63Leu
NM_001368143.1:c.-237A>T NP_001355072.1:p.=
NM_001368144.1:c.-147A>T NP_001355073.1:p.=
NM_001128590.4:c.188A>T NP_001122062.3:p.His63Leu
NM_001368143.2:c.-237A>T NP_001355072.1:p.=
NM_001368144.2:c.-147A>T NP_001355073.1:p.=