Canonical Allele Identifier: CA3732553

Gene: CYP21A2

Linked Data

• dbSNP Id: rs552304134
• ExAC: 6:32007886 C / T
• gnomAD v2: 6-32007886-C-T
• gnomAD v3: 6-32040109-C-T
• gnomAD v4: 6-32040109-C-T
• MyVariant Identifiers: chr6:g.32007886C>T (hg19) ; chr6:g.32040109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040109C>T , CM000668.2:g.32040109C>T	GRCh38
NC_000006.11:g.32007886C>T , CM000668.1:g.32007886C>T	GRCh37
NC_000006.10:g.32115865C>T	NCBI36
NG_007941.2:g.6802C>T
NG_008337.2:g.74266G>A
NG_007941.3:g.6805C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.843C>T MANE Select	ENSP00000496625.1:p.His281=
ENST00000418967.6:c.843C>T	ENSP00000408860.2:p.His281=
ENST00000435122.3:c.753C>T	ENSP00000415043.2:p.His251=
ENST00000479074.5:n.901C>T
ENST00000479730.5:n.959C>T
ENST00000483041.5:n.1012C>T
ENST00000486063.5:n.918+274C>T
NM_000500.7:c.843C>T	NP_000491.4:p.His281=
NM_001128590.3:c.753C>T	NP_001122062.3:p.His251=
XM_011514314.1:c.438C>T	XP_011512616.1:p.His146=
NM_000500.9:c.843C>T MANE Select	NP_000491.4:p.His281=
NM_001368143.1:c.438C>T	NP_001355072.1:p.His146=
NM_001368144.1:c.438C>T	NP_001355073.1:p.His146=
NM_001128590.4:c.753C>T	NP_001122062.3:p.His251=
NM_001368143.2:c.438C>T	NP_001355072.1:p.His146=
NM_001368144.2:c.438C>T	NP_001355073.1:p.His146=