Canonical Allele Identifier: CA363500044
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038790-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038790G>A , CM000668.2:g.32038790G>A GRCh38
NC_000006.11:g.32006567G>A , CM000668.1:g.32006567G>A GRCh37
NC_000006.10:g.32114546G>A NCBI36
NG_007941.2:g.5483G>A
NG_007941.3:g.5486G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.271G>A MANE Select ENSP00000496625.1:p.Gly91Ser
ENST00000418967.6:c.271G>A ENSP00000408860.2:p.Gly91Ser
ENST00000435122.3:c.202+166G>A ENSP00000415043.2:n.202+166G>A
ENST00000464325.5:n.208G>A
ENST00000466779.5:c.271G>A ENSP00000417321.1:p.Gly91Ser
ENST00000466879.5:n.40G>A
ENST00000469053.5:c.202+166G>A ENSP00000418104.1:n.202+166G>A
ENST00000471671.4:c.271G>A ENSP00000418561.1:p.Gly91Ser
ENST00000478281.5:c.271G>A ENSP00000419572.1:p.Gly91Ser
ENST00000479074.5:n.329G>A
ENST00000479730.5:n.426G>A
ENST00000480027.1:n.324G>A
ENST00000483041.5:n.421G>A
ENST00000486063.5:n.451G>A
ENST00000488465.1:n.279G>A
NM_000500.7:c.271G>A NP_000491.4:p.Gly91Ser
NM_001128590.3:c.202+166G>A NP_001122062.3:n.202+166G>A
XM_011514314.1:c.-154G>A XP_011512616.1:n.-154G>A
NM_000500.9:c.271G>A MANE Select NP_000491.4:p.Gly91Ser
NM_001368143.1:c.-154G>A NP_001355072.1:n.-154G>A
NM_001368144.1:c.-133+166G>A NP_001355073.1:n.-133+166G>A
NM_001128590.4:c.202+166G>A NP_001122062.3:n.202+166G>A
NM_001368143.2:c.-154G>A NP_001355072.1:n.-154G>A
NM_001368144.2:c.-133+166G>A NP_001355073.1:n.-133+166G>A