Canonical Allele Identifier: CA363504201

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039628-A-G
• MyVariant Identifiers: chr6:g.32007405A>G (hg19) ; chr6:g.32039628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039628A>G , CM000668.2:g.32039628A>G	GRCh38
NC_000006.11:g.32007405A>G , CM000668.1:g.32007405A>G	GRCh37
NC_000006.10:g.32115384A>G	NCBI36
NG_007941.2:g.6321A>G
NG_008337.2:g.74747T>C
NG_007941.3:g.6324A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.632A>G MANE Select	ENSP00000496625.1:p.Asp211Gly
ENST00000418967.6:c.632A>G	ENSP00000408860.2:p.Asp211Gly
ENST00000435122.3:c.542A>G	ENSP00000415043.2:p.Asp181Gly
ENST00000462278.1:n.220A>G
ENST00000464325.5:n.553A>G
ENST00000466779.5:c.*324A>G	ENSP00000417321.1:n.*324A>G
ENST00000466879.5:n.683A>G
ENST00000469053.5:c.*324A>G	ENSP00000418104.1:n.*324A>G
ENST00000479074.5:n.690A>G
ENST00000479730.5:n.748A>G
ENST00000483041.5:n.801A>G
ENST00000486063.5:n.812A>G
NM_000500.7:c.632A>G	NP_000491.4:p.Asp211Gly
NM_001128590.3:c.542A>G	NP_001122062.3:p.Asp181Gly
XM_011514314.1:c.227A>G	XP_011512616.1:p.Asp76Gly
NM_000500.9:c.632A>G MANE Select	NP_000491.4:p.Asp211Gly
NM_001368143.1:c.227A>G	NP_001355072.1:p.Asp76Gly
NM_001368144.1:c.227A>G	NP_001355073.1:p.Asp76Gly
NM_001128590.4:c.542A>G	NP_001122062.3:p.Asp181Gly
NM_001368143.2:c.227A>G	NP_001355072.1:p.Asp76Gly
NM_001368144.2:c.227A>G	NP_001355073.1:p.Asp76Gly