Canonical Allele Identifier: CA3732373
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 585754
dbSNP Id: rs566065375
gnomAD v2: 6-32006949-C-T
gnomAD v3: 6-32039172-C-T
gnomAD v4: 6-32039172-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039172C>T , CM000668.2:g.32039172C>T GRCh38
NC_000006.11:g.32006949C>T , CM000668.1:g.32006949C>T GRCh37
NC_000006.10:g.32114928C>T NCBI36
NG_007941.2:g.5865C>T
NG_008337.2:g.75203G>A
NG_007941.3:g.5868C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.371C>T MANE Select ENSP00000496625.1:p.Thr124Ile
ENST00000418967.6:c.371C>T ENSP00000408860.2:p.Thr124Ile
ENST00000435122.3:c.281C>T ENSP00000415043.2:p.Thr94Ile
ENST00000464325.5:n.292C>T
ENST00000466779.5:c.*63C>T ENSP00000417321.1:n.*63C>T
ENST00000466879.5:n.422C>T
ENST00000469053.5:c.*63C>T ENSP00000418104.1:n.*63C>T
ENST00000471671.4:c.371C>T ENSP00000418561.1:p.Thr124Ile
ENST00000478281.5:c.404C>T ENSP00000419572.1:p.Thr135Ile
ENST00000479074.5:n.429C>T
ENST00000479730.5:n.526C>T
ENST00000483041.5:n.540C>T
ENST00000486063.5:n.551C>T
ENST00000488465.1:n.379C>T
NM_000500.7:c.371C>T NP_000491.4:p.Thr124Ile
NM_001128590.3:c.281C>T NP_001122062.3:p.Thr94Ile
XM_011514314.1:c.-35C>T XP_011512616.1:n.-35C>T
NM_000500.9:c.371C>T MANE Select NP_000491.4:p.Thr124Ile
NM_001368143.1:c.-35C>T NP_001355072.1:n.-35C>T
NM_001368144.1:c.-35C>T NP_001355073.1:n.-35C>T
NM_001128590.4:c.281C>T NP_001122062.3:p.Thr94Ile
NM_001368143.2:c.-35C>T NP_001355072.1:n.-35C>T
NM_001368144.2:c.-35C>T NP_001355073.1:n.-35C>T