Canonical Allele Identifier: CA129645

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040072G>C , CM000668.2:g.32040072G>C	GRCh38
NC_000006.11:g.32007849G>C , CM000668.1:g.32007849G>C	GRCh37
NC_000006.10:g.32115828G>C	NCBI36
NG_007941.2:g.6765G>C
NG_008337.2:g.74303C>G
NG_007941.3:g.6768G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.806G>C MANE Select	ENSP00000496625.1:p.Ser269Thr
ENST00000418967.6:c.806G>C	ENSP00000408860.2:p.Ser269Thr
ENST00000435122.3:c.716G>C	ENSP00000415043.2:p.Ser239Thr
ENST00000479074.5:n.864G>C
ENST00000479730.5:n.922G>C
ENST00000483041.5:n.975G>C
ENST00000486063.5:n.918+237G>C
NM_000500.7:c.806G>C	NP_000491.4:p.Ser269Thr
NM_001128590.3:c.716G>C	NP_001122062.3:p.Ser239Thr
XM_011514314.1:c.401G>C	XP_011512616.1:p.Ser134Thr
NM_000500.9:c.806G>C MANE Select	NP_000491.4:p.Ser269Thr
NM_001368143.1:c.401G>C	NP_001355072.1:p.Ser134Thr
NM_001368144.1:c.401G>C	NP_001355073.1:p.Ser134Thr
NM_001128590.4:c.716G>C	NP_001122062.3:p.Ser239Thr
NM_001368143.2:c.401G>C	NP_001355072.1:p.Ser134Thr
NM_001368144.2:c.401G>C	NP_001355073.1:p.Ser134Thr