Canonical Allele Identifier: CA3732709
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs748625702
gnomAD v2: 6-32008640-C-G
gnomAD v3: 6-32040863-C-G
gnomAD v4: 6-32040863-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040863C>G , CM000668.2:g.32040863C>G GRCh38
NC_000006.11:g.32008640C>G , CM000668.1:g.32008640C>G GRCh37
NC_000006.10:g.32116619C>G NCBI36
NG_007941.2:g.7556C>G
NG_008337.2:g.73512G>C
NG_007941.3:g.7559C>G

Transcript Alleles

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