Canonical Allele Identifier: CA449818761
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008243C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040466C>A , CM000668.2:g.32040466C>A GRCh38
NC_000006.11:g.32008243C>A , CM000668.1:g.32008243C>A GRCh37
NC_000006.10:g.32116222C>A NCBI36
NG_007941.2:g.7159C>A
NG_008337.2:g.73909G>T
NG_007941.3:g.7162C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1000C>A MANE Select ENSP00000496625.1:p.Arg334=
ENST00000418967.6:c.1000C>A ENSP00000408860.2:p.Arg334=
ENST00000435122.3:c.910C>A ENSP00000415043.2:p.Arg304=
ENST00000479074.5:n.1058C>A
ENST00000479730.5:n.1116C>A
ENST00000483041.5:n.1169C>A
ENST00000486063.5:n.979C>A
NM_000500.7:c.1000C>A NP_000491.4:p.Arg334=
NM_001128590.3:c.910C>A NP_001122062.3:p.Arg304=
XM_011514314.1:c.595C>A XP_011512616.1:p.Arg199=
NM_000500.9:c.1000C>A MANE Select NP_000491.4:p.Arg334=
NM_001368143.1:c.595C>A NP_001355072.1:p.Arg199=
NM_001368144.1:c.595C>A NP_001355073.1:p.Arg199=
NM_001128590.4:c.910C>A NP_001122062.3:p.Arg304=
NM_001368143.2:c.595C>A NP_001355072.1:p.Arg199=
NM_001368144.2:c.595C>A NP_001355073.1:p.Arg199=