Canonical Allele Identifier: CA363503992

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039609-T-C
• MyVariant Identifiers: chr6:g.32007386T>C (hg19) ; chr6:g.32039609T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039609T>C , CM000668.2:g.32039609T>C	GRCh38
NC_000006.11:g.32007386T>C , CM000668.1:g.32007386T>C	GRCh37
NC_000006.10:g.32115365T>C	NCBI36
NG_007941.2:g.6302T>C
NG_008337.2:g.74766A>G
NG_007941.3:g.6305T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.613T>C MANE Select	ENSP00000496625.1:p.Trp205Arg
ENST00000418967.6:c.613T>C	ENSP00000408860.2:p.Trp205Arg
ENST00000435122.3:c.523T>C	ENSP00000415043.2:p.Trp175Arg
ENST00000462278.1:n.201T>C
ENST00000464325.5:n.534T>C
ENST00000466779.5:c.*305T>C	ENSP00000417321.1:n.*305T>C
ENST00000466879.5:n.664T>C
ENST00000469053.5:c.*305T>C	ENSP00000418104.1:n.*305T>C
ENST00000479074.5:n.671T>C
ENST00000479730.5:n.729T>C
ENST00000483041.5:n.782T>C
ENST00000486063.5:n.793T>C
NM_000500.7:c.613T>C	NP_000491.4:p.Trp205Arg
NM_001128590.3:c.523T>C	NP_001122062.3:p.Trp175Arg
XM_011514314.1:c.208T>C	XP_011512616.1:p.Trp70Arg
NM_000500.9:c.613T>C MANE Select	NP_000491.4:p.Trp205Arg
NM_001368143.1:c.208T>C	NP_001355072.1:p.Trp70Arg
NM_001368144.1:c.208T>C	NP_001355073.1:p.Trp70Arg
NM_001128590.4:c.523T>C	NP_001122062.3:p.Trp175Arg
NM_001368143.2:c.208T>C	NP_001355072.1:p.Trp70Arg
NM_001368144.2:c.208T>C	NP_001355073.1:p.Trp70Arg