Canonical Allele Identifier: CA1619397107
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1776132630
gnomAD v4: 6-32039687-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039687A>G , CM000668.2:g.32039687A>G GRCh38
NC_000006.11:g.32007464A>G , CM000668.1:g.32007464A>G GRCh37
NC_000006.10:g.32115443A>G NCBI36
NG_007941.2:g.6380A>G
NG_008337.2:g.74688T>C
NG_007941.3:g.6383A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.651+40A>G MANE Select ENSP00000496625.1:n.651+40A>G
ENST00000418967.6:c.651+40A>G ENSP00000408860.2:n.651+40A>G
ENST00000435122.3:c.561+40A>G ENSP00000415043.2:n.561+40A>G
ENST00000462278.1:n.279A>G
ENST00000464325.5:n.572+40A>G
ENST00000466779.5:c.*343+40A>G ENSP00000417321.1:n.*343+40A>G
ENST00000466879.5:n.702+40A>G
ENST00000479074.5:n.709+40A>G
ENST00000479730.5:n.767+40A>G
ENST00000483041.5:n.820+40A>G
ENST00000486063.5:n.831+40A>G
NM_000500.7:c.651+40A>G NP_000491.4:n.651+40A>G
NM_001128590.3:c.561+40A>G NP_001122062.3:n.561+40A>G
XM_011514314.1:c.246+40A>G XP_011512616.1:n.246+40A>G
NM_000500.9:c.651+40A>G MANE Select NP_000491.4:n.651+40A>G
NM_001368143.1:c.246+40A>G NP_001355072.1:n.246+40A>G
NM_001368144.1:c.246+40A>G NP_001355073.1:n.246+40A>G
NM_001128590.4:c.561+40A>G NP_001122062.3:n.561+40A>G
NM_001368143.2:c.246+40A>G NP_001355072.1:n.246+40A>G
NM_001368144.2:c.246+40A>G NP_001355073.1:n.246+40A>G