Canonical Allele Identifier: CA1087499343
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1776283394
gnomAD v3: 6-32040849-A-G
gnomAD v4: 6-32040849-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040849A>G , CM000668.2:g.32040849A>G GRCh38
NC_000006.11:g.32008626A>G , CM000668.1:g.32008626A>G GRCh37
NC_000006.10:g.32116605A>G NCBI36
NG_007941.2:g.7542A>G
NG_008337.2:g.73526T>C
NG_007941.3:g.7545A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1223-20A>G MANE Select ENSP00000496625.1:n.1223-20A>G
ENST00000418967.6:c.1223-20A>G ENSP00000408860.2:n.1223-20A>G
ENST00000435122.3:c.1133-20A>G ENSP00000415043.2:n.1133-20A>G
ENST00000479074.5:n.1364-20A>G
ENST00000479730.5:n.1339-20A>G
ENST00000483041.5:n.1392-20A>G
ENST00000486063.5:n.1202-20A>G
NM_000500.7:c.1223-20A>G NP_000491.4:n.1223-20A>G
NM_001128590.3:c.1133-20A>G NP_001122062.3:n.1133-20A>G
XM_011514314.1:c.818-20A>G XP_011512616.1:n.818-20A>G
NM_000500.9:c.1223-20A>G MANE Select NP_000491.4:n.1223-20A>G
NM_001368143.1:c.818-20A>G NP_001355072.1:n.818-20A>G
NM_001368144.1:c.818-20A>G NP_001355073.1:n.818-20A>G
NM_001128590.4:c.1133-20A>G NP_001122062.3:n.1133-20A>G
NM_001368143.2:c.818-20A>G NP_001355072.1:n.818-20A>G
NM_001368144.2:c.818-20A>G NP_001355073.1:n.818-20A>G