Canonical Allele Identifier: CA136893638

Gene: CYP21A2

Linked Data

• dbSNP Id: rs185054992
• gnomAD v2: 6-32006748-C-A
• gnomAD v3: 6-32038971-C-A
• gnomAD v4: 6-32038971-C-A
• MyVariant Identifiers: chr6:g.32006748C>A (hg19) ; chr6:g.32038971C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038971C>A , CM000668.2:g.32038971C>A	GRCh38
NC_000006.11:g.32006748C>A , CM000668.1:g.32006748C>A	GRCh37
NC_000006.10:g.32114727C>A	NCBI36
NG_007941.2:g.5664C>A
NG_007941.3:g.5667C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-123C>A MANE Select	ENSP00000496625.1:n.293-123C>A
ENST00000418967.6:c.293-123C>A	ENSP00000408860.2:n.293-123C>A
ENST00000435122.3:c.203-123C>A	ENSP00000415043.2:n.203-123C>A
ENST00000464325.5:n.230-139C>A
ENST00000466779.5:c.293-104C>A	ENSP00000417321.1:n.293-104C>A
ENST00000466879.5:n.221C>A
ENST00000469053.5:c.203-104C>A	ENSP00000418104.1:n.203-104C>A
ENST00000471671.4:c.293-123C>A	ENSP00000418561.1:n.293-123C>A
ENST00000478281.5:c.293-90C>A	ENSP00000419572.1:n.293-90C>A
ENST00000479074.5:n.351-123C>A
ENST00000479730.5:n.448-123C>A
ENST00000480027.1:n.505C>A
ENST00000483041.5:n.443-104C>A
ENST00000486063.5:n.473-123C>A
ENST00000488465.1:n.301-123C>A
NM_000500.7:c.293-123C>A	NP_000491.4:n.293-123C>A
NM_001128590.3:c.203-123C>A	NP_001122062.3:n.203-123C>A
XM_011514314.1:c.-132-104C>A	XP_011512616.1:n.-132-104C>A
NM_000500.9:c.293-123C>A MANE Select	NP_000491.4:n.293-123C>A
NM_001368143.1:c.-132-104C>A	NP_001355072.1:n.-132-104C>A
NM_001368144.1:c.-132-104C>A	NP_001355073.1:n.-132-104C>A
NM_001128590.4:c.203-123C>A	NP_001122062.3:n.203-123C>A
NM_001368143.2:c.-132-104C>A	NP_001355072.1:n.-132-104C>A
NM_001368144.2:c.-132-104C>A	NP_001355073.1:n.-132-104C>A