Canonical Allele Identifier: CA3732534

Gene: CYP21A2

Linked Data

• dbSNP Id: rs771426013
• ExAC: 6:32007796 A / G
• MyVariant Identifiers: chr6:g.32007796A>G (hg19) ; chr6:g.32040019A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040019A>G , CM000668.2:g.32040019A>G	GRCh38
NC_000006.11:g.32007796A>G , CM000668.1:g.32007796A>G	GRCh37
NC_000006.10:g.32115775A>G	NCBI36
NG_007941.2:g.6712A>G
NG_008337.2:g.74356T>C
NG_007941.3:g.6715A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.753A>G MANE Select	ENSP00000496625.1:p.Ala251=
ENST00000418967.6:c.753A>G	ENSP00000408860.2:p.Ala251=
ENST00000435122.3:c.663A>G	ENSP00000415043.2:p.Ala221=
ENST00000479074.5:n.811A>G
ENST00000479730.5:n.869A>G
ENST00000483041.5:n.922A>G
ENST00000486063.5:n.918+184A>G
NM_000500.7:c.753A>G	NP_000491.4:p.Ala251=
NM_001128590.3:c.663A>G	NP_001122062.3:p.Ala221=
XM_011514314.1:c.348A>G	XP_011512616.1:p.Ala116=
NM_000500.9:c.753A>G MANE Select	NP_000491.4:p.Ala251=
NM_001368143.1:c.348A>G	NP_001355072.1:p.Ala116=
NM_001368144.1:c.348A>G	NP_001355073.1:p.Ala116=
NM_001128590.4:c.663A>G	NP_001122062.3:p.Ala221=
NM_001368143.2:c.348A>G	NP_001355072.1:p.Ala116=
NM_001368144.2:c.348A>G	NP_001355073.1:p.Ala116=