Canonical Allele Identifier: CA363510485

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1582309373
• gnomAD v3: 6-32040416-G-A
• gnomAD v4: 6-32040416-G-A
• MyVariant Identifiers: chr6:g.32008193G>A (hg19) ; chr6:g.32040416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040416G>A , CM000668.2:g.32040416G>A	GRCh38
NC_000006.11:g.32008193G>A , CM000668.1:g.32008193G>A	GRCh37
NC_000006.10:g.32116172G>A	NCBI36
NG_007941.2:g.7109G>A
NG_008337.2:g.73959C>T
NG_007941.3:g.7112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.950G>A MANE Select	ENSP00000496625.1:p.Arg317Gln
ENST00000418967.6:c.950G>A	ENSP00000408860.2:p.Arg317Gln
ENST00000435122.3:c.860G>A	ENSP00000415043.2:p.Arg287Gln
ENST00000479074.5:n.1008G>A
ENST00000479730.5:n.1066G>A
ENST00000483041.5:n.1119G>A
ENST00000486063.5:n.929G>A
NM_000500.7:c.950G>A	NP_000491.4:p.Arg317Gln
NM_001128590.3:c.860G>A	NP_001122062.3:p.Arg287Gln
XM_011514314.1:c.545G>A	XP_011512616.1:p.Arg182Gln
NM_000500.9:c.950G>A MANE Select	NP_000491.4:p.Arg317Gln
NM_001368143.1:c.545G>A	NP_001355072.1:p.Arg182Gln
NM_001368144.1:c.545G>A	NP_001355073.1:p.Arg182Gln
NM_001128590.4:c.860G>A	NP_001122062.3:p.Arg287Gln
NM_001368143.2:c.545G>A	NP_001355072.1:p.Arg182Gln
NM_001368144.2:c.545G>A	NP_001355073.1:p.Arg182Gln