Canonical Allele Identifier: CA1619396869
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs6466
gnomAD v4: 6-32039286-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039286C>G , CM000668.2:g.32039286C>G GRCh38
NC_000006.11:g.32007063C>G , CM000668.1:g.32007063C>G GRCh37
NC_000006.10:g.32115042C>G NCBI36
NG_007941.2:g.5979C>G
NG_008337.2:g.75089G>C
NG_007941.3:g.5982C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.447+38C>G MANE Select ENSP00000496625.1:n.447+38C>G
ENST00000418967.6:c.447+38C>G ENSP00000408860.2:n.447+38C>G
ENST00000435122.3:c.357+38C>G ENSP00000415043.2:n.357+38C>G
ENST00000462278.1:n.35+38C>G
ENST00000464325.5:n.368+38C>G
ENST00000466779.5:c.*139+38C>G ENSP00000417321.1:n.*139+38C>G
ENST00000466879.5:n.498+38C>G
ENST00000469053.5:c.*139+38C>G ENSP00000418104.1:n.*139+38C>G
ENST00000471671.4:c.447+38C>G ENSP00000418561.1:n.447+38C>G
ENST00000478281.5:c.480+38C>G ENSP00000419572.1:n.480+38C>G
ENST00000479074.5:n.505+38C>G
ENST00000479730.5:n.602+38C>G
ENST00000483041.5:n.616+38C>G
ENST00000486063.5:n.627+38C>G
ENST00000488465.1:n.455+38C>G
NM_000500.7:c.447+38C>G NP_000491.4:n.447+38C>G
NM_001128590.3:c.357+38C>G NP_001122062.3:n.357+38C>G
XM_011514314.1:c.42+38C>G XP_011512616.1:n.42+38C>G
NM_000500.9:c.447+38C>G MANE Select NP_000491.4:n.447+38C>G
NM_001368143.1:c.42+38C>G NP_001355072.1:n.42+38C>G
NM_001368144.1:c.42+38C>G NP_001355073.1:n.42+38C>G
NM_001128590.4:c.357+38C>G NP_001122062.3:n.357+38C>G
NM_001368143.2:c.42+38C>G NP_001355072.1:n.42+38C>G
NM_001368144.2:c.42+38C>G NP_001355073.1:n.42+38C>G