Canonical Allele Identifier: CA3732613
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs548446169
gnomAD v2: 6-32008261-C-T
gnomAD v3: 6-32040484-C-T
gnomAD v4: 6-32040484-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040484C>T , CM000668.2:g.32040484C>T GRCh38
NC_000006.11:g.32008261C>T , CM000668.1:g.32008261C>T GRCh37
NC_000006.10:g.32116240C>T NCBI36
NG_007941.2:g.7177C>T
NG_008337.2:g.73891G>A
NG_007941.3:g.7180C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1018C>T MANE Select ENSP00000496625.1:p.Arg340Cys
ENST00000418967.6:c.1018C>T ENSP00000408860.2:p.Arg340Cys
ENST00000435122.3:c.928C>T ENSP00000415043.2:p.Arg310Cys
ENST00000479074.5:n.1076C>T
ENST00000479730.5:n.1134C>T
ENST00000483041.5:n.1187C>T
ENST00000486063.5:n.997C>T
NM_000500.7:c.1018C>T NP_000491.4:p.Arg340Cys
NM_001128590.3:c.928C>T NP_001122062.3:p.Arg310Cys
XM_011514314.1:c.613C>T XP_011512616.1:p.Arg205Cys
NM_000500.9:c.1018C>T MANE Select NP_000491.4:p.Arg340Cys
NM_001368143.1:c.613C>T NP_001355072.1:p.Arg205Cys
NM_001368144.1:c.613C>T NP_001355073.1:p.Arg205Cys
NM_001128590.4:c.928C>T NP_001122062.3:p.Arg310Cys
NM_001368143.2:c.613C>T NP_001355072.1:p.Arg205Cys
NM_001368144.2:c.613C>T NP_001355073.1:p.Arg205Cys