Canonical Allele Identifier: CA363501269

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039174-C-A
• MyVariant Identifiers: chr6:g.32006951C>A (hg19) ; chr6:g.32039174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039174C>A , CM000668.2:g.32039174C>A	GRCh38
NC_000006.11:g.32006951C>A , CM000668.1:g.32006951C>A	GRCh37
NC_000006.10:g.32114930C>A	NCBI36
NG_007941.2:g.5867C>A
NG_008337.2:g.75201G>T
NG_007941.3:g.5870C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.373C>A MANE Select	ENSP00000496625.1:p.Arg125Ser
ENST00000418967.6:c.373C>A	ENSP00000408860.2:p.Arg125Ser
ENST00000435122.3:c.283C>A	ENSP00000415043.2:p.Arg95Ser
ENST00000464325.5:n.294C>A
ENST00000466779.5:c.*65C>A	ENSP00000417321.1:n.*65C>A
ENST00000466879.5:n.424C>A
ENST00000469053.5:c.*65C>A	ENSP00000418104.1:n.*65C>A
ENST00000471671.4:c.373C>A	ENSP00000418561.1:p.Arg125Ser
ENST00000478281.5:c.406C>A	ENSP00000419572.1:p.Arg136Ser
ENST00000479074.5:n.431C>A
ENST00000479730.5:n.528C>A
ENST00000483041.5:n.542C>A
ENST00000486063.5:n.553C>A
ENST00000488465.1:n.381C>A
NM_000500.7:c.373C>A	NP_000491.4:p.Arg125Ser
NM_001128590.3:c.283C>A	NP_001122062.3:p.Arg95Ser
XM_011514314.1:c.-33C>A	XP_011512616.1:n.-33C>A
NM_000500.9:c.373C>A MANE Select	NP_000491.4:p.Arg125Ser
NM_001368143.1:c.-33C>A	NP_001355072.1:n.-33C>A
NM_001368144.1:c.-33C>A	NP_001355073.1:n.-33C>A
NM_001128590.4:c.283C>A	NP_001122062.3:p.Arg95Ser
NM_001368143.2:c.-33C>A	NP_001355072.1:n.-33C>A
NM_001368144.2:c.-33C>A	NP_001355073.1:n.-33C>A