Canonical Allele Identifier: CA363505435

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007602G>C (hg19) ; chr6:g.32039825G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039825G>C , CM000668.2:g.32039825G>C	GRCh38
NC_000006.11:g.32007602G>C , CM000668.1:g.32007602G>C	GRCh37
NC_000006.10:g.32115581G>C	NCBI36
NG_007941.2:g.6518G>C
NG_008337.2:g.74550C>G
NG_007941.3:g.6521G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.728G>C MANE Select	ENSP00000496625.1:p.Arg243Thr
ENST00000418967.6:c.728G>C	ENSP00000408860.2:p.Arg243Thr
ENST00000435122.3:c.638G>C	ENSP00000415043.2:p.Arg213Thr
ENST00000462278.1:n.417G>C
ENST00000479074.5:n.786G>C
ENST00000479730.5:n.844G>C
ENST00000483041.5:n.897G>C
ENST00000486063.5:n.908G>C
NM_000500.7:c.728G>C	NP_000491.4:p.Arg243Thr
NM_001128590.3:c.638G>C	NP_001122062.3:p.Arg213Thr
XM_011514314.1:c.323G>C	XP_011512616.1:p.Arg108Thr
NM_000500.9:c.728G>C MANE Select	NP_000491.4:p.Arg243Thr
NM_001368143.1:c.323G>C	NP_001355072.1:p.Arg108Thr
NM_001368144.1:c.323G>C	NP_001355073.1:p.Arg108Thr
NM_001128590.4:c.638G>C	NP_001122062.3:p.Arg213Thr
NM_001368143.2:c.323G>C	NP_001355072.1:p.Arg108Thr
NM_001368144.2:c.323G>C	NP_001355073.1:p.Arg108Thr