Canonical Allele Identifier: CA449729471
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32007806A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040029A>C , CM000668.2:g.32040029A>C GRCh38
NC_000006.11:g.32007806A>C , CM000668.1:g.32007806A>C GRCh37
NC_000006.10:g.32115785A>C NCBI36
NG_007941.2:g.6722A>C
NG_008337.2:g.74346T>G
NG_007941.3:g.6725A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.763A>C MANE Select ENSP00000496625.1:p.Arg255=
ENST00000418967.6:c.763A>C ENSP00000408860.2:p.Arg255=
ENST00000435122.3:c.673A>C ENSP00000415043.2:p.Arg225=
ENST00000479074.5:n.821A>C
ENST00000479730.5:n.879A>C
ENST00000483041.5:n.932A>C
ENST00000486063.5:n.918+194A>C
NM_000500.7:c.763A>C NP_000491.4:p.Arg255=
NM_001128590.3:c.673A>C NP_001122062.3:p.Arg225=
XM_011514314.1:c.358A>C XP_011512616.1:p.Arg120=
NM_000500.9:c.763A>C MANE Select NP_000491.4:p.Arg255=
NM_001368143.1:c.358A>C NP_001355072.1:p.Arg120=
NM_001368144.1:c.358A>C NP_001355073.1:p.Arg120=
NM_001128590.4:c.673A>C NP_001122062.3:p.Arg225=
NM_001368143.2:c.358A>C NP_001355072.1:p.Arg120=
NM_001368144.2:c.358A>C NP_001355073.1:p.Arg120=