Canonical Allele Identifier: CA3732447

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 802197
• ClinVar RCV Id: RCV000987668 ; RCV000991864
• dbSNP Id: rs143240527
• ExAC: 6:32007370 A / T
• gnomAD v2: 6-32007370-A-T
• gnomAD v3: 6-32039593-A-T
• gnomAD v4: 6-32039593-A-T
• MyVariant Identifiers: chr6:g.32007370A>T (hg19) ; chr6:g.32039593A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039593A>T , CM000668.2:g.32039593A>T	GRCh38
NC_000006.11:g.32007370A>T , CM000668.1:g.32007370A>T	GRCh37
NC_000006.10:g.32115349A>T	NCBI36
NG_007941.2:g.6286A>T
NG_008337.2:g.74782T>A
NG_007941.3:g.6289A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.597A>T MANE Select	ENSP00000496625.1:p.Leu199Phe
ENST00000418967.6:c.597A>T	ENSP00000408860.2:p.Leu199Phe
ENST00000435122.3:c.507A>T	ENSP00000415043.2:p.Leu169Phe
ENST00000462278.1:n.185A>T
ENST00000464325.5:n.518A>T
ENST00000466779.5:c.*289A>T	ENSP00000417321.1:n.*289A>T
ENST00000466879.5:n.648A>T
ENST00000469053.5:c.*289A>T	ENSP00000418104.1:n.*289A>T
ENST00000471671.4:c.558A>T	ENSP00000418561.1:p.Leu186Phe
ENST00000479074.5:n.655A>T
ENST00000479730.5:n.713A>T
ENST00000483041.5:n.766A>T
ENST00000486063.5:n.777A>T
NM_000500.7:c.597A>T	NP_000491.4:p.Leu199Phe
NM_001128590.3:c.507A>T	NP_001122062.3:p.Leu169Phe
XM_011514314.1:c.192A>T	XP_011512616.1:p.Leu64Phe
NM_000500.9:c.597A>T MANE Select	NP_000491.4:p.Leu199Phe
NM_001368143.1:c.192A>T	NP_001355072.1:p.Leu64Phe
NM_001368144.1:c.192A>T	NP_001355073.1:p.Leu64Phe
NM_001128590.4:c.507A>T	NP_001122062.3:p.Leu169Phe
NM_001368143.2:c.192A>T	NP_001355072.1:p.Leu64Phe
NM_001368144.2:c.192A>T	NP_001355073.1:p.Leu64Phe