Canonical Allele Identifier: CA449819234
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008674C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040897C>A , CM000668.2:g.32040897C>A GRCh38
NC_000006.11:g.32008674C>A , CM000668.1:g.32008674C>A GRCh37
NC_000006.10:g.32116653C>A NCBI36
NG_007941.2:g.7590C>A
NG_008337.2:g.73478G>T
NG_007941.3:g.7593C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1251C>A MANE Select ENSP00000496625.1:p.Ser417=
ENST00000418967.6:c.1251C>A ENSP00000408860.2:p.Ser417=
ENST00000435122.3:c.1161C>A ENSP00000415043.2:p.Ser387=
ENST00000479074.5:n.1392C>A
ENST00000479730.5:n.1367C>A
ENST00000483041.5:n.1420C>A
ENST00000486063.5:n.1230C>A
NM_000500.7:c.1251C>A NP_000491.4:p.Ser417=
NM_001128590.3:c.1161C>A NP_001122062.3:p.Ser387=
XM_011514314.1:c.846C>A XP_011512616.1:p.Ser282=
NM_000500.9:c.1251C>A MANE Select NP_000491.4:p.Ser417=
NM_001368143.1:c.846C>A NP_001355072.1:p.Ser282=
NM_001368144.1:c.846C>A NP_001355073.1:p.Ser282=
NM_001128590.4:c.1161C>A NP_001122062.3:p.Ser387=
NM_001368143.2:c.846C>A NP_001355072.1:p.Ser282=
NM_001368144.2:c.846C>A NP_001355073.1:p.Ser282=