Canonical Allele Identifier: CA823930408
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs936560222
gnomAD v4: 6-32038986-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038986G>A , CM000668.2:g.32038986G>A GRCh38
NC_000006.11:g.32006763G>A , CM000668.1:g.32006763G>A GRCh37
NC_000006.10:g.32114742G>A NCBI36
NG_007941.2:g.5679G>A
NG_007941.3:g.5682G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-108G>A MANE Select ENSP00000496625.1:n.293-108G>A
ENST00000418967.6:c.293-108G>A ENSP00000408860.2:n.293-108G>A
ENST00000435122.3:c.203-108G>A ENSP00000415043.2:n.203-108G>A
ENST00000464325.5:n.230-124G>A
ENST00000466779.5:c.293-89G>A ENSP00000417321.1:n.293-89G>A
ENST00000466879.5:n.236G>A
ENST00000469053.5:c.203-89G>A ENSP00000418104.1:n.203-89G>A
ENST00000471671.4:c.293-108G>A ENSP00000418561.1:n.293-108G>A
ENST00000478281.5:c.293-75G>A ENSP00000419572.1:n.293-75G>A
ENST00000479074.5:n.351-108G>A
ENST00000479730.5:n.448-108G>A
ENST00000480027.1:n.520G>A
ENST00000483041.5:n.443-89G>A
ENST00000486063.5:n.473-108G>A
ENST00000488465.1:n.301-108G>A
NM_000500.7:c.293-108G>A NP_000491.4:n.293-108G>A
NM_001128590.3:c.203-108G>A NP_001122062.3:n.203-108G>A
XM_011514314.1:c.-132-89G>A XP_011512616.1:n.-132-89G>A
NM_000500.9:c.293-108G>A MANE Select NP_000491.4:n.293-108G>A
NM_001368143.1:c.-132-89G>A NP_001355072.1:n.-132-89G>A
NM_001368144.1:c.-132-89G>A NP_001355073.1:n.-132-89G>A
NM_001128590.4:c.203-108G>A NP_001122062.3:n.203-108G>A
NM_001368143.2:c.-132-89G>A NP_001355072.1:n.-132-89G>A
NM_001368144.2:c.-132-89G>A NP_001355073.1:n.-132-89G>A