Canonical Allele Identifier: CA3732614
Gene: CYP21A2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs72552754

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040485G>A , CM000668.2:g.32040485G>A GRCh38
NC_000006.11:g.32008262G>A , CM000668.1:g.32008262G>A GRCh37
NC_000006.10:g.32116241G>A NCBI36
NG_007941.2:g.7178G>A
NG_008337.2:g.73890C>T
NG_007941.3:g.7181G>A

Transcript Alleles

HGVS Amino-acid change
NM_000500.7:c.1019G>A VV NP_000491.4:p.Arg340His
NM_001128590.3:c.929G>A VV NP_001122062.3:p.Arg310His
XM_011514314.1:c.614G>A XP_011512616.1:p.Arg205His
NM_000500.9:c.1019G>A VV NP_000491.4:p.Arg340His
ENST00000418967.6:c.1019G>A ENSP00000408860.2:p.Arg340His
ENST00000435122.3:c.929G>A ENSP00000415043.2:p.Arg310His
ENST00000479074.5:n.1077G>A
ENST00000479730.5:n.1135G>A
ENST00000483041.5:n.1188G>A
ENST00000486063.5:n.998G>A