Canonical Allele Identifier: CA363511936
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1264327
ClinVar RCV Id: RCV001667853
dbSNP Id: rs2151876633

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040920G>T , CM000668.2:g.32040920G>T GRCh38
NC_000006.11:g.32008697G>T , CM000668.1:g.32008697G>T GRCh37
NC_000006.10:g.32116676G>T NCBI36
NG_007941.2:g.7613G>T
NG_008337.2:g.73455C>A
NG_007941.3:g.7616G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1274G>T MANE Select ENSP00000496625.1:p.Gly425Val
ENST00000418967.6:c.1274G>T ENSP00000408860.2:p.Gly425Val
ENST00000435122.3:c.1184G>T ENSP00000415043.2:p.Gly395Val
ENST00000479074.5:n.1415G>T
ENST00000479730.5:n.1390G>T
ENST00000483041.5:n.1443G>T
ENST00000486063.5:n.1253G>T
NM_000500.7:c.1274G>T NP_000491.4:p.Gly425Val
NM_001128590.3:c.1184G>T NP_001122062.3:p.Gly395Val
XM_011514314.1:c.869G>T XP_011512616.1:p.Gly290Val
NM_000500.9:c.1274G>T MANE Select NP_000491.4:p.Gly425Val
NM_001368143.1:c.869G>T NP_001355072.1:p.Gly290Val
NM_001368144.1:c.869G>T NP_001355073.1:p.Gly290Val
NM_001128590.4:c.1184G>T NP_001122062.3:p.Gly395Val
NM_001368143.2:c.869G>T NP_001355072.1:p.Gly290Val
NM_001368144.2:c.869G>T NP_001355073.1:p.Gly290Val