Canonical Allele Identifier: CA823930395

Gene: CYP21A2

Linked Data

• dbSNP Id: rs567593813
• MyVariant Identifiers: chr6:g.32006745G>C (hg19) ; chr6:g.32038968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038968G>C , CM000668.2:g.32038968G>C	GRCh38
NC_000006.11:g.32006745G>C , CM000668.1:g.32006745G>C	GRCh37
NC_000006.10:g.32114724G>C	NCBI36
NG_007941.2:g.5661G>C
NG_007941.3:g.5664G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-126G>C MANE Select	ENSP00000496625.1:n.293-126G>C
ENST00000418967.6:c.293-126G>C	ENSP00000408860.2:n.293-126G>C
ENST00000435122.3:c.203-126G>C	ENSP00000415043.2:n.203-126G>C
ENST00000464325.5:n.230-142G>C
ENST00000466779.5:c.293-107G>C	ENSP00000417321.1:n.293-107G>C
ENST00000466879.5:n.218G>C
ENST00000469053.5:c.203-107G>C	ENSP00000418104.1:n.203-107G>C
ENST00000471671.4:c.293-126G>C	ENSP00000418561.1:n.293-126G>C
ENST00000478281.5:c.293-93G>C	ENSP00000419572.1:n.293-93G>C
ENST00000479074.5:n.351-126G>C
ENST00000479730.5:n.448-126G>C
ENST00000480027.1:n.502G>C
ENST00000483041.5:n.443-107G>C
ENST00000486063.5:n.473-126G>C
ENST00000488465.1:n.301-126G>C
NM_000500.7:c.293-126G>C	NP_000491.4:n.293-126G>C
NM_001128590.3:c.203-126G>C	NP_001122062.3:n.203-126G>C
XM_011514314.1:c.-132-107G>C	XP_011512616.1:n.-132-107G>C
NM_000500.9:c.293-126G>C MANE Select	NP_000491.4:n.293-126G>C
NM_001368143.1:c.-132-107G>C	NP_001355072.1:n.-132-107G>C
NM_001368144.1:c.-132-107G>C	NP_001355073.1:n.-132-107G>C
NM_001128590.4:c.203-126G>C	NP_001122062.3:n.203-126G>C
NM_001368143.2:c.-132-107G>C	NP_001355072.1:n.-132-107G>C
NM_001368144.2:c.-132-107G>C	NP_001355073.1:n.-132-107G>C