Canonical Allele Identifier: CA3732734

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041097G>C , CM000668.2:g.32041097G>C	GRCh38
NC_000006.11:g.32008874G>C , CM000668.1:g.32008874G>C	GRCh37
NC_000006.10:g.32116853G>C	NCBI36
NG_007941.2:g.7790G>C
NG_008337.2:g.73278C>G
NG_007941.3:g.7793G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.1451G>C MANE Select	NP_000491.4:p.Arg484Pro
ENST00000644719.2:c.1451G>C MANE Select	ENSP00000496625.1:p.Arg484Pro
NM_000500.7:c.1451G>C	NP_000491.4:p.Arg484Pro
NM_001128590.3:c.1361G>C	NP_001122062.3:p.Arg454Pro
NM_001128590.4:c.1361G>C	NP_001122062.3:p.Arg454Pro
NM_001368143.1:c.1046G>C	NP_001355072.1:p.Arg349Pro
NM_001368143.2:c.1046G>C	NP_001355072.1:p.Arg349Pro
NM_001368144.1:c.1046G>C	NP_001355073.1:p.Arg349Pro
NM_001368144.2:c.1046G>C	NP_001355073.1:p.Arg349Pro
ENST00000418967.6:c.1451G>C	ENSP00000408860.2:p.Arg484Pro
ENST00000435122.3:c.1361G>C	ENSP00000415043.2:p.Arg454Pro
ENST00000479074.5:n.1592G>C
ENST00000479730.5:n.1567G>C
ENST00000483041.5:n.1620G>C
ENST00000486063.5:n.1430G>C
XM_011514314.1:c.1046G>C	XP_011512616.1:p.Arg349Pro