Canonical Allele Identifier: CA363504945

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776144441
• gnomAD v3: 6-32039786-C-A
• gnomAD v4: 6-32039786-C-A
• MyVariant Identifiers: chr6:g.32007563C>A (hg19) ; chr6:g.32039786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039786C>A , CM000668.2:g.32039786C>A	GRCh38
NC_000006.11:g.32007563C>A , CM000668.1:g.32007563C>A	GRCh37
NC_000006.10:g.32115542C>A	NCBI36
NG_007941.2:g.6479C>A
NG_008337.2:g.74589G>T
NG_007941.3:g.6482C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.689C>A MANE Select	ENSP00000496625.1:p.Ala230Asp
ENST00000418967.6:c.689C>A	ENSP00000408860.2:p.Ala230Asp
ENST00000435122.3:c.599C>A	ENSP00000415043.2:p.Ala200Asp
ENST00000462278.1:n.378C>A
ENST00000466779.5:c.*381C>A	ENSP00000417321.1:n.*381C>A
ENST00000466879.5:n.740C>A
ENST00000479074.5:n.747C>A
ENST00000479730.5:n.805C>A
ENST00000483041.5:n.858C>A
ENST00000486063.5:n.869C>A
NM_000500.7:c.689C>A	NP_000491.4:p.Ala230Asp
NM_001128590.3:c.599C>A	NP_001122062.3:p.Ala200Asp
XM_011514314.1:c.284C>A	XP_011512616.1:p.Ala95Asp
NM_000500.9:c.689C>A MANE Select	NP_000491.4:p.Ala230Asp
NM_001368143.1:c.284C>A	NP_001355072.1:p.Ala95Asp
NM_001368144.1:c.284C>A	NP_001355073.1:p.Ala95Asp
NM_001128590.4:c.599C>A	NP_001122062.3:p.Ala200Asp
NM_001368143.2:c.284C>A	NP_001355072.1:p.Ala95Asp
NM_001368144.2:c.284C>A	NP_001355073.1:p.Ala95Asp