Canonical Allele Identifier: CA1619396721
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs59064806
gnomAD v4: 6-32039046-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039046A>C , CM000668.2:g.32039046A>C GRCh38
NC_000006.11:g.32006823A>C , CM000668.1:g.32006823A>C GRCh37
NC_000006.10:g.32114802A>C NCBI36
NG_007941.2:g.5739A>C
NG_007941.3:g.5742A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.293-48A>C MANE Select ENSP00000496625.1:n.293-48A>C
ENST00000418967.6:c.293-48A>C ENSP00000408860.2:n.293-48A>C
ENST00000435122.3:c.203-48A>C ENSP00000415043.2:n.203-48A>C
ENST00000464325.5:n.230-64A>C
ENST00000466779.5:c.293-29A>C ENSP00000417321.1:n.293-29A>C
ENST00000466879.5:n.296A>C
ENST00000469053.5:c.203-29A>C ENSP00000418104.1:n.203-29A>C
ENST00000471671.4:c.293-48A>C ENSP00000418561.1:n.293-48A>C
ENST00000478281.5:c.293-15A>C ENSP00000419572.1:n.293-15A>C
ENST00000479074.5:n.351-48A>C
ENST00000479730.5:n.448-48A>C
ENST00000480027.1:n.580A>C
ENST00000483041.5:n.443-29A>C
ENST00000486063.5:n.473-48A>C
ENST00000488465.1:n.301-48A>C
NM_000500.7:c.293-48A>C NP_000491.4:n.293-48A>C
NM_001128590.3:c.203-48A>C NP_001122062.3:n.203-48A>C
XM_011514314.1:c.-132-29A>C XP_011512616.1:n.-132-29A>C
NM_000500.9:c.293-48A>C MANE Select NP_000491.4:n.293-48A>C
NM_001368143.1:c.-132-29A>C NP_001355072.1:n.-132-29A>C
NM_001368144.1:c.-132-29A>C NP_001355073.1:n.-132-29A>C
NM_001128590.4:c.203-48A>C NP_001122062.3:n.203-48A>C
NM_001368143.2:c.-132-29A>C NP_001355072.1:n.-132-29A>C
NM_001368144.2:c.-132-29A>C NP_001355073.1:n.-132-29A>C