Canonical Allele Identifier: CA3732254

Gene: CYP21A2

Linked Data

• dbSNP Id: rs542910191
• ExAC: 6:32006187 C / A
• gnomAD v2: 6-32006187-C-A
• gnomAD v3: 6-32038410-C-A
• gnomAD v4: 6-32038410-C-A
• MyVariant Identifiers: chr6:g.32006187C>A (hg19) ; chr6:g.32038410C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038410C>A , CM000668.2:g.32038410C>A	GRCh38
NC_000006.11:g.32006187C>A , CM000668.1:g.32006187C>A	GRCh37
NC_000006.10:g.32114166C>A	NCBI36
NG_007941.2:g.5106C>A
NG_007941.3:g.5106C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418967.6:c.-13C>A	ENSP00000408860.2:n.-13C>A
ENST00000466779.5:c.-13C>A	ENSP00000417321.1:n.-13C>A
ENST00000478281.5:c.-13C>A	ENSP00000419572.1:n.-13C>A
ENST00000479074.5:n.46C>A
ENST00000479730.5:n.46C>A
ENST00000480027.1:n.41C>A
ENST00000483041.5:n.41C>A
ENST00000486063.5:n.71C>A
NM_000500.7:c.-13C>A	NP_000491.4:n.-13C>A
NM_001128590.3:c.-13C>A	NP_001122062.3:n.-13C>A
XM_011514314.1:c.-437C>A	XP_011512616.1:n.-437C>A
NM_001368143.1:c.-437C>A	NP_001355072.1:n.-437C>A
NM_001368144.1:c.-347C>A	NP_001355073.1:n.-347C>A