Canonical Allele Identifier: CA566693944
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1776336090
gnomAD v2: 6-32008916-G-A
gnomAD v4: 6-32041139-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041139G>A , CM000668.2:g.32041139G>A GRCh38
NC_000006.11:g.32008916G>A , CM000668.1:g.32008916G>A GRCh37
NC_000006.10:g.32116895G>A NCBI36
NG_007941.2:g.7832G>A
NG_008337.2:g.73236C>T
NG_007941.3:g.7835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.*5G>A MANE Select ENSP00000496625.1:n.*5G>A
ENST00000418967.6:c.*5G>A ENSP00000408860.2:n.*5G>A
ENST00000435122.3:c.*5G>A ENSP00000415043.2:n.*5G>A
ENST00000479074.5:n.1634G>A
ENST00000479730.5:n.1609G>A
ENST00000483041.5:n.1662G>A
ENST00000486063.5:n.1472G>A
NM_000500.7:c.*5G>A NP_000491.4:n.*5G>A
NM_001128590.3:c.*5G>A NP_001122062.3:n.*5G>A
XM_011514314.1:c.*5G>A XP_011512616.1:n.*5G>A
NM_000500.9:c.*5G>A MANE Select NP_000491.4:n.*5G>A
NM_001368143.1:c.*5G>A NP_001355072.1:n.*5G>A
NM_001368144.1:c.*5G>A NP_001355073.1:n.*5G>A
NM_001128590.4:c.*5G>A NP_001122062.3:n.*5G>A
NM_001368143.2:c.*5G>A NP_001355072.1:n.*5G>A
NM_001368144.2:c.*5G>A NP_001355073.1:n.*5G>A