Canonical Allele Identifier: CA3732574

Gene: CYP21A2

Linked Data

• dbSNP Id: rs780412947
• ExAC: 6:32007986 C / A
• gnomAD v2: 6-32007986-C-A
• gnomAD v3: 6-32040209-C-A
• gnomAD v4: 6-32040209-C-A
• MyVariant Identifiers: chr6:g.32007986C>A (hg19) ; chr6:g.32040209C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040209C>A , CM000668.2:g.32040209C>A	GRCh38
NC_000006.11:g.32007986C>A , CM000668.1:g.32007986C>A	GRCh37
NC_000006.10:g.32115965C>A	NCBI36
NG_007941.2:g.6902C>A
NG_008337.2:g.74166G>T
NG_007941.3:g.6905C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.939+4C>A MANE Select	ENSP00000496625.1:n.939+4C>A
ENST00000418967.6:c.939+4C>A	ENSP00000408860.2:n.939+4C>A
ENST00000435122.3:c.849+4C>A	ENSP00000415043.2:n.849+4C>A
ENST00000479074.5:n.997+4C>A
ENST00000479730.5:n.1055+4C>A
ENST00000483041.5:n.1108+4C>A
ENST00000486063.5:n.919-197C>A
NM_000500.7:c.939+4C>A	NP_000491.4:n.939+4C>A
NM_001128590.3:c.849+4C>A	NP_001122062.3:n.849+4C>A
XM_011514314.1:c.534+4C>A	XP_011512616.1:n.534+4C>A
NM_000500.9:c.939+4C>A MANE Select	NP_000491.4:n.939+4C>A
NM_001368143.1:c.534+4C>A	NP_001355072.1:n.534+4C>A
NM_001368144.1:c.534+4C>A	NP_001355073.1:n.534+4C>A
NM_001128590.4:c.849+4C>A	NP_001122062.3:n.849+4C>A
NM_001368143.2:c.534+4C>A	NP_001355072.1:n.534+4C>A
NM_001368144.2:c.534+4C>A	NP_001355073.1:n.534+4C>A