Canonical Allele Identifier: CA3732653
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12181
ClinVar RCV Id: RCV000012963
dbSNP Id: rs151344506
gnomAD v2: 6-32008452-G-A
gnomAD v3: 6-32040675-G-A
gnomAD v4: 6-32040675-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040675G>A , CM000668.2:g.32040675G>A GRCh38
NC_000006.11:g.32008452G>A , CM000668.1:g.32008452G>A GRCh37
NC_000006.10:g.32116431G>A NCBI36
NG_007941.2:g.7368G>A
NG_008337.2:g.73700C>T
NG_007941.3:g.7371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1126G>A MANE Select ENSP00000496625.1:p.Gly376Ser
ENST00000418967.6:c.1126G>A ENSP00000408860.2:p.Gly376Ser
ENST00000435122.3:c.1036G>A ENSP00000415043.2:p.Gly346Ser
ENST00000479074.5:n.1267G>A
ENST00000479730.5:n.1242G>A
ENST00000483041.5:n.1295G>A
ENST00000486063.5:n.1105G>A
NM_000500.7:c.1126G>A NP_000491.4:p.Gly376Ser
NM_001128590.3:c.1036G>A NP_001122062.3:p.Gly346Ser
XM_011514314.1:c.721G>A XP_011512616.1:p.Gly241Ser
NM_000500.9:c.1126G>A MANE Select NP_000491.4:p.Gly376Ser
NM_001368143.1:c.721G>A NP_001355072.1:p.Gly241Ser
NM_001368144.1:c.721G>A NP_001355073.1:p.Gly241Ser
NM_001128590.4:c.1036G>A NP_001122062.3:p.Gly346Ser
NM_001368143.2:c.721G>A NP_001355072.1:p.Gly241Ser
NM_001368144.2:c.721G>A NP_001355073.1:p.Gly241Ser