Canonical Allele Identifier: CA363510538
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1218862033
gnomAD v3: 6-32040424-G-A
gnomAD v4: 6-32040424-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040424G>A , CM000668.2:g.32040424G>A GRCh38
NC_000006.11:g.32008201G>A , CM000668.1:g.32008201G>A GRCh37
NC_000006.10:g.32116180G>A NCBI36
NG_007941.2:g.7117G>A
NG_008337.2:g.73951C>T
NG_007941.3:g.7120G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.958G>A MANE Select ENSP00000496625.1:p.Glu320Lys
ENST00000418967.6:c.958G>A ENSP00000408860.2:p.Glu320Lys
ENST00000435122.3:c.868G>A ENSP00000415043.2:p.Glu290Lys
ENST00000479074.5:n.1016G>A
ENST00000479730.5:n.1074G>A
ENST00000483041.5:n.1127G>A
ENST00000486063.5:n.937G>A
NM_000500.7:c.958G>A NP_000491.4:p.Glu320Lys
NM_001128590.3:c.868G>A NP_001122062.3:p.Glu290Lys
XM_011514314.1:c.553G>A XP_011512616.1:p.Glu185Lys
NM_000500.9:c.958G>A MANE Select NP_000491.4:p.Glu320Lys
NM_001368143.1:c.553G>A NP_001355072.1:p.Glu185Lys
NM_001368144.1:c.553G>A NP_001355073.1:p.Glu185Lys
NM_001128590.4:c.868G>A NP_001122062.3:p.Glu290Lys
NM_001368143.2:c.553G>A NP_001355072.1:p.Glu185Lys
NM_001368144.2:c.553G>A NP_001355073.1:p.Glu185Lys