Canonical Allele Identifier: CA449729687
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32007874C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040097C>A , CM000668.2:g.32040097C>A GRCh38
NC_000006.11:g.32007874C>A , CM000668.1:g.32007874C>A GRCh37
NC_000006.10:g.32115853C>A NCBI36
NG_007941.2:g.6790C>A
NG_008337.2:g.74278G>T
NG_007941.3:g.6793C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.831C>A MANE Select ENSP00000496625.1:p.Leu277=
ENST00000418967.6:c.831C>A ENSP00000408860.2:p.Leu277=
ENST00000435122.3:c.741C>A ENSP00000415043.2:p.Leu247=
ENST00000479074.5:n.889C>A
ENST00000479730.5:n.947C>A
ENST00000483041.5:n.1000C>A
ENST00000486063.5:n.918+262C>A
NM_000500.7:c.831C>A NP_000491.4:p.Leu277=
NM_001128590.3:c.741C>A NP_001122062.3:p.Leu247=
XM_011514314.1:c.426C>A XP_011512616.1:p.Leu142=
NM_000500.9:c.831C>A MANE Select NP_000491.4:p.Leu277=
NM_001368143.1:c.426C>A NP_001355072.1:p.Leu142=
NM_001368144.1:c.426C>A NP_001355073.1:p.Leu142=
NM_001128590.4:c.741C>A NP_001122062.3:p.Leu247=
NM_001368143.2:c.426C>A NP_001355072.1:p.Leu142=
NM_001368144.2:c.426C>A NP_001355073.1:p.Leu142=