Canonical Allele Identifier: CA449818738
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008209A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040432A>G , CM000668.2:g.32040432A>G GRCh38
NC_000006.11:g.32008209A>G , CM000668.1:g.32008209A>G GRCh37
NC_000006.10:g.32116188A>G NCBI36
NG_007941.2:g.7125A>G
NG_008337.2:g.73943T>C
NG_007941.3:g.7128A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.966A>G MANE Select ENSP00000496625.1:p.Leu322=
ENST00000418967.6:c.966A>G ENSP00000408860.2:p.Leu322=
ENST00000435122.3:c.876A>G ENSP00000415043.2:p.Leu292=
ENST00000479074.5:n.1024A>G
ENST00000479730.5:n.1082A>G
ENST00000483041.5:n.1135A>G
ENST00000486063.5:n.945A>G
NM_000500.7:c.966A>G NP_000491.4:p.Leu322=
NM_001128590.3:c.876A>G NP_001122062.3:p.Leu292=
XM_011514314.1:c.561A>G XP_011512616.1:p.Leu187=
NM_000500.9:c.966A>G MANE Select NP_000491.4:p.Leu322=
NM_001368143.1:c.561A>G NP_001355072.1:p.Leu187=
NM_001368144.1:c.561A>G NP_001355073.1:p.Leu187=
NM_001128590.4:c.876A>G NP_001122062.3:p.Leu292=
NM_001368143.2:c.561A>G NP_001355072.1:p.Leu187=
NM_001368144.2:c.561A>G NP_001355073.1:p.Leu187=