Canonical Allele Identifier: CA363504247

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039633-A-T
• MyVariant Identifiers: chr6:g.32007410A>T (hg19) ; chr6:g.32039633A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039633A>T , CM000668.2:g.32039633A>T	GRCh38
NC_000006.11:g.32007410A>T , CM000668.1:g.32007410A>T	GRCh37
NC_000006.10:g.32115389A>T	NCBI36
NG_007941.2:g.6326A>T
NG_008337.2:g.74742T>A
NG_007941.3:g.6329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.637A>T MANE Select	ENSP00000496625.1:p.Ile213Phe
ENST00000418967.6:c.637A>T	ENSP00000408860.2:p.Ile213Phe
ENST00000435122.3:c.547A>T	ENSP00000415043.2:p.Ile183Phe
ENST00000462278.1:n.225A>T
ENST00000464325.5:n.558A>T
ENST00000466779.5:c.*329A>T	ENSP00000417321.1:n.*329A>T
ENST00000466879.5:n.688A>T
ENST00000469053.5:c.*329A>T	ENSP00000418104.1:n.*329A>T
ENST00000479074.5:n.695A>T
ENST00000479730.5:n.753A>T
ENST00000483041.5:n.806A>T
ENST00000486063.5:n.817A>T
NM_000500.7:c.637A>T	NP_000491.4:p.Ile213Phe
NM_001128590.3:c.547A>T	NP_001122062.3:p.Ile183Phe
XM_011514314.1:c.232A>T	XP_011512616.1:p.Ile78Phe
NM_000500.9:c.637A>T MANE Select	NP_000491.4:p.Ile213Phe
NM_001368143.1:c.232A>T	NP_001355072.1:p.Ile78Phe
NM_001368144.1:c.232A>T	NP_001355073.1:p.Ile78Phe
NM_001128590.4:c.547A>T	NP_001122062.3:p.Ile183Phe
NM_001368143.2:c.232A>T	NP_001355072.1:p.Ile78Phe
NM_001368144.2:c.232A>T	NP_001355073.1:p.Ile78Phe