Canonical Allele Identifier: CA566693802
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1162404832
gnomAD v2: 6-32006158-G-A
gnomAD v4: 6-32038381-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038381G>A , CM000668.2:g.32038381G>A GRCh38
NC_000006.11:g.32006158G>A , CM000668.1:g.32006158G>A GRCh37
NC_000006.10:g.32114137G>A NCBI36
NG_007941.2:g.5077G>A
NG_007941.3:g.5077G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000418967.6:c.-42G>A ENSP00000408860.2:n.-42G>A
ENST00000466779.5:c.-42G>A ENSP00000417321.1:n.-42G>A
ENST00000479074.5:n.17G>A
ENST00000479730.5:n.17G>A
ENST00000480027.1:n.12G>A
ENST00000483041.5:n.12G>A
ENST00000486063.5:n.42G>A
NM_000500.7:c.-42G>A NP_000491.4:n.-42G>A
NM_001128590.3:c.-42G>A NP_001122062.3:n.-42G>A
XM_011514314.1:c.-466G>A XP_011512616.1:n.-466G>A
NM_001368143.1:c.-466G>A NP_001355072.1:n.-466G>A
NM_001368144.1:c.-376G>A NP_001355073.1:n.-376G>A