Canonical Allele Identifier: CA363498987
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1775993589
gnomAD v3: 6-32038529-G-C
gnomAD v4: 6-32038529-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038529G>C , CM000668.2:g.32038529G>C GRCh38
NC_000006.11:g.32006306G>C , CM000668.1:g.32006306G>C GRCh37
NC_000006.10:g.32114285G>C NCBI36
NG_007941.2:g.5222G>C
NG_007941.3:g.5225G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.107G>C MANE Select ENSP00000496625.1:p.Gly36Ala
ENST00000418967.6:c.107G>C ENSP00000408860.2:p.Gly36Ala
ENST00000435122.3:c.107G>C ENSP00000415043.2:p.Gly36Ala
ENST00000466779.5:c.107G>C ENSP00000417321.1:p.Gly36Ala
ENST00000469053.5:c.107G>C ENSP00000418104.1:p.Gly36Ala
ENST00000471671.4:c.107G>C ENSP00000418561.1:p.Gly36Ala
ENST00000478281.5:c.107G>C ENSP00000419572.1:p.Gly36Ala
ENST00000479074.5:n.165G>C
ENST00000479730.5:n.165G>C
ENST00000480027.1:n.160G>C
ENST00000483041.5:n.160G>C
ENST00000486063.5:n.190G>C
ENST00000488465.1:n.115G>C
NM_000500.7:c.107G>C NP_000491.4:p.Gly36Ala
NM_001128590.3:c.107G>C NP_001122062.3:p.Gly36Ala
XM_011514314.1:c.-318G>C XP_011512616.1:n.-318G>C
NM_000500.9:c.107G>C MANE Select NP_000491.4:p.Gly36Ala
NM_001368143.1:c.-318G>C NP_001355072.1:n.-318G>C
NM_001368144.1:c.-228G>C NP_001355073.1:n.-228G>C
NM_001128590.4:c.107G>C NP_001122062.3:p.Gly36Ala
NM_001368143.2:c.-318G>C NP_001355072.1:n.-318G>C
NM_001368144.2:c.-228G>C NP_001355073.1:n.-228G>C