Canonical Allele Identifier: CA363512772
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1181537610
gnomAD v2: 6-32008908-G-C
gnomAD v4: 6-32041131-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041131G>C , CM000668.2:g.32041131G>C GRCh38
NC_000006.11:g.32008908G>C , CM000668.1:g.32008908G>C GRCh37
NC_000006.10:g.32116887G>C NCBI36
NG_007941.2:g.7824G>C
NG_008337.2:g.73244C>G
NG_007941.3:g.7827G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1485G>C MANE Select ENSP00000496625.1:p.Gln495His
ENST00000418967.6:c.1485G>C ENSP00000408860.2:p.Gln495His
ENST00000435122.3:c.1395G>C ENSP00000415043.2:p.Gln465His
ENST00000479074.5:n.1626G>C
ENST00000479730.5:n.1601G>C
ENST00000483041.5:n.1654G>C
ENST00000486063.5:n.1464G>C
NM_000500.7:c.1485G>C NP_000491.4:p.Gln495His
NM_001128590.3:c.1395G>C NP_001122062.3:p.Gln465His
XM_011514314.1:c.1080G>C XP_011512616.1:p.Gln360His
NM_000500.9:c.1485G>C MANE Select NP_000491.4:p.Gln495His
NM_001368143.1:c.1080G>C NP_001355072.1:p.Gln360His
NM_001368144.1:c.1080G>C NP_001355073.1:p.Gln360His
NM_001128590.4:c.1395G>C NP_001122062.3:p.Gln465His
NM_001368143.2:c.1080G>C NP_001355072.1:p.Gln360His
NM_001368144.2:c.1080G>C NP_001355073.1:p.Gln360His