Canonical Allele Identifier: CA363510774

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040458-C-G
• MyVariant Identifiers: chr6:g.32008235C>G (hg19) ; chr6:g.32040458C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040458C>G , CM000668.2:g.32040458C>G	GRCh38
NC_000006.11:g.32008235C>G , CM000668.1:g.32008235C>G	GRCh37
NC_000006.10:g.32116214C>G	NCBI36
NG_007941.2:g.7151C>G
NG_008337.2:g.73917G>C
NG_007941.3:g.7154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.992C>G MANE Select	ENSP00000496625.1:p.Ser331Cys
ENST00000418967.6:c.992C>G	ENSP00000408860.2:p.Ser331Cys
ENST00000435122.3:c.902C>G	ENSP00000415043.2:p.Ser301Cys
ENST00000479074.5:n.1050C>G
ENST00000479730.5:n.1108C>G
ENST00000483041.5:n.1161C>G
ENST00000486063.5:n.971C>G
NM_000500.7:c.992C>G	NP_000491.4:p.Ser331Cys
NM_001128590.3:c.902C>G	NP_001122062.3:p.Ser301Cys
XM_011514314.1:c.587C>G	XP_011512616.1:p.Ser196Cys
NM_000500.9:c.992C>G MANE Select	NP_000491.4:p.Ser331Cys
NM_001368143.1:c.587C>G	NP_001355072.1:p.Ser196Cys
NM_001368144.1:c.587C>G	NP_001355073.1:p.Ser196Cys
NM_001128590.4:c.902C>G	NP_001122062.3:p.Ser301Cys
NM_001368143.2:c.587C>G	NP_001355072.1:p.Ser196Cys
NM_001368144.2:c.587C>G	NP_001355073.1:p.Ser196Cys