Canonical Allele Identifier: CA566693917

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1258432122
• gnomAD v2: 6-32007516-C-T
• MyVariant Identifiers: chr6:g.32007516C>T (hg19) ; chr6:g.32039739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039739C>T , CM000668.2:g.32039739C>T	GRCh38
NC_000006.11:g.32007516C>T , CM000668.1:g.32007516C>T	GRCh37
NC_000006.10:g.32115495C>T	NCBI36
NG_007941.2:g.6432C>T
NG_008337.2:g.74636G>A
NG_007941.3:g.6435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.652-10C>T MANE Select	ENSP00000496625.1:n.652-10C>T
ENST00000418967.6:c.652-10C>T	ENSP00000408860.2:n.652-10C>T
ENST00000435122.3:c.562-10C>T	ENSP00000415043.2:n.562-10C>T
ENST00000462278.1:n.331C>T
ENST00000464325.5:n.573-10C>T
ENST00000466779.5:c.*344-10C>T	ENSP00000417321.1:n.*344-10C>T
ENST00000466879.5:n.703-10C>T
ENST00000479074.5:n.710-10C>T
ENST00000479730.5:n.768-10C>T
ENST00000483041.5:n.821-10C>T
ENST00000486063.5:n.832-10C>T
NM_000500.7:c.652-10C>T	NP_000491.4:n.652-10C>T
NM_001128590.3:c.562-10C>T	NP_001122062.3:n.562-10C>T
XM_011514314.1:c.247-10C>T	XP_011512616.1:n.247-10C>T
NM_000500.9:c.652-10C>T MANE Select	NP_000491.4:n.652-10C>T
NM_001368143.1:c.247-10C>T	NP_001355072.1:n.247-10C>T
NM_001368144.1:c.247-10C>T	NP_001355073.1:n.247-10C>T
NM_001128590.4:c.562-10C>T	NP_001122062.3:n.562-10C>T
NM_001368143.2:c.247-10C>T	NP_001355072.1:n.247-10C>T
NM_001368144.2:c.247-10C>T	NP_001355073.1:n.247-10C>T