Canonical Allele Identifier: CA3732453

Gene: CYP21A2

Linked Data

• dbSNP Id: rs530139262
• ExAC: 6:32007406 C / T
• gnomAD v2: 6-32007406-C-T
• gnomAD v3: 6-32039629-C-T
• gnomAD v4: 6-32039629-C-T
• MyVariant Identifiers: chr6:g.32007406C>T (hg19) ; chr6:g.32039629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039629C>T , CM000668.2:g.32039629C>T	GRCh38
NC_000006.11:g.32007406C>T , CM000668.1:g.32007406C>T	GRCh37
NC_000006.10:g.32115385C>T	NCBI36
NG_007941.2:g.6322C>T
NG_008337.2:g.74746G>A
NG_007941.3:g.6325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.633C>T MANE Select	ENSP00000496625.1:p.Asp211=
ENST00000418967.6:c.633C>T	ENSP00000408860.2:p.Asp211=
ENST00000435122.3:c.543C>T	ENSP00000415043.2:p.Asp181=
ENST00000462278.1:n.221C>T
ENST00000464325.5:n.554C>T
ENST00000466779.5:c.*325C>T	ENSP00000417321.1:n.*325C>T
ENST00000466879.5:n.684C>T
ENST00000469053.5:c.*325C>T	ENSP00000418104.1:n.*325C>T
ENST00000479074.5:n.691C>T
ENST00000479730.5:n.749C>T
ENST00000483041.5:n.802C>T
ENST00000486063.5:n.813C>T
NM_000500.7:c.633C>T	NP_000491.4:p.Asp211=
NM_001128590.3:c.543C>T	NP_001122062.3:p.Asp181=
XM_011514314.1:c.228C>T	XP_011512616.1:p.Asp76=
NM_000500.9:c.633C>T MANE Select	NP_000491.4:p.Asp211=
NM_001368143.1:c.228C>T	NP_001355072.1:p.Asp76=
NM_001368144.1:c.228C>T	NP_001355073.1:p.Asp76=
NM_001128590.4:c.543C>T	NP_001122062.3:p.Asp181=
NM_001368143.2:c.228C>T	NP_001355072.1:p.Asp76=
NM_001368144.2:c.228C>T	NP_001355073.1:p.Asp76=