Canonical Allele Identifier: CA363500109

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038799-G-A
• MyVariant Identifiers: chr6:g.32006576G>A (hg19) ; chr6:g.32038799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038799G>A , CM000668.2:g.32038799G>A	GRCh38
NC_000006.11:g.32006576G>A , CM000668.1:g.32006576G>A	GRCh37
NC_000006.10:g.32114555G>A	NCBI36
NG_007941.2:g.5492G>A
NG_007941.3:g.5495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.280G>A MANE Select	ENSP00000496625.1:p.Glu94Lys
ENST00000418967.6:c.280G>A	ENSP00000408860.2:p.Glu94Lys
ENST00000435122.3:c.202+175G>A	ENSP00000415043.2:n.202+175G>A
ENST00000464325.5:n.217G>A
ENST00000466779.5:c.280G>A	ENSP00000417321.1:p.Glu94Lys
ENST00000466879.5:n.49G>A
ENST00000469053.5:c.202+175G>A	ENSP00000418104.1:n.202+175G>A
ENST00000471671.4:c.280G>A	ENSP00000418561.1:p.Glu94Lys
ENST00000478281.5:c.280G>A	ENSP00000419572.1:p.Glu94Lys
ENST00000479074.5:n.338G>A
ENST00000479730.5:n.435G>A
ENST00000480027.1:n.333G>A
ENST00000483041.5:n.430G>A
ENST00000486063.5:n.460G>A
ENST00000488465.1:n.288G>A
NM_000500.7:c.280G>A	NP_000491.4:p.Glu94Lys
NM_001128590.3:c.202+175G>A	NP_001122062.3:n.202+175G>A
XM_011514314.1:c.-145G>A	XP_011512616.1:n.-145G>A
NM_000500.9:c.280G>A MANE Select	NP_000491.4:p.Glu94Lys
NM_001368143.1:c.-145G>A	NP_001355072.1:n.-145G>A
NM_001368144.1:c.-133+175G>A	NP_001355073.1:n.-133+175G>A
NM_001128590.4:c.202+175G>A	NP_001122062.3:n.202+175G>A
NM_001368143.2:c.-145G>A	NP_001355072.1:n.-145G>A
NM_001368144.2:c.-133+175G>A	NP_001355073.1:n.-133+175G>A