Canonical Allele Identifier: CA449729435
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32007796A>C (hg19)

Genomic Alleles

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

Transcript Alleles

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