Canonical Allele Identifier: CA136893274
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs63749090
gnomAD v2: 6-32006245-G-A
gnomAD v3: 6-32038468-G-A
gnomAD v4: 6-32038468-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038468G>A , CM000668.2:g.32038468G>A GRCh38
NC_000006.11:g.32006245G>A , CM000668.1:g.32006245G>A GRCh37
NC_000006.10:g.32114224G>A NCBI36
NG_007941.2:g.5161G>A
NG_007941.3:g.5164G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.46G>A MANE Select ENSP00000496625.1:p.Ala16Thr
ENST00000418967.6:c.46G>A ENSP00000408860.2:p.Ala16Thr
ENST00000435122.3:c.46G>A ENSP00000415043.2:p.Ala16Thr
ENST00000466779.5:c.46G>A ENSP00000417321.1:p.Ala16Thr
ENST00000469053.5:c.46G>A ENSP00000418104.1:p.Ala16Thr
ENST00000471671.4:c.46G>A ENSP00000418561.1:p.Ala16Thr
ENST00000478281.5:c.46G>A ENSP00000419572.1:p.Ala16Thr
ENST00000479074.5:n.104G>A
ENST00000479730.5:n.104G>A
ENST00000480027.1:n.99G>A
ENST00000483041.5:n.99G>A
ENST00000486063.5:n.129G>A
ENST00000488465.1:n.54G>A
NM_000500.7:c.46G>A NP_000491.4:p.Ala16Thr
NM_001128590.3:c.46G>A NP_001122062.3:p.Ala16Thr
XM_011514314.1:c.-379G>A XP_011512616.1:n.-379G>A
NM_000500.9:c.46G>A MANE Select NP_000491.4:p.Ala16Thr
NM_001368143.1:c.-379G>A NP_001355072.1:n.-379G>A
NM_001368144.1:c.-289G>A NP_001355073.1:n.-289G>A
NM_001128590.4:c.46G>A NP_001122062.3:p.Ala16Thr
NM_001368143.2:c.-379G>A NP_001355072.1:n.-379G>A
NM_001368144.2:c.-289G>A NP_001355073.1:n.-289G>A