Canonical Allele Identifier: CA363499377
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038591G>T , CM000668.2:g.32038591G>T GRCh38
NC_000006.11:g.32006368G>T , CM000668.1:g.32006368G>T GRCh37
NC_000006.10:g.32114347G>T NCBI36
NG_007941.2:g.5284G>T
NG_007941.3:g.5287G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.169G>T MANE Select ENSP00000496625.1:p.Gly57Trp
ENST00000418967.6:c.169G>T ENSP00000408860.2:p.Gly57Trp
ENST00000435122.3:c.169G>T ENSP00000415043.2:p.Gly57Trp
ENST00000464325.5:n.9G>T
ENST00000466779.5:c.169G>T ENSP00000417321.1:p.Gly57Trp
ENST00000469053.5:c.169G>T ENSP00000418104.1:p.Gly57Trp
ENST00000471671.4:c.169G>T ENSP00000418561.1:p.Gly57Trp
ENST00000478281.5:c.169G>T ENSP00000419572.1:p.Gly57Trp
ENST00000479074.5:n.227G>T
ENST00000479730.5:n.227G>T
ENST00000480027.1:n.222G>T
ENST00000483041.5:n.222G>T
ENST00000486063.5:n.252G>T
ENST00000488465.1:n.177G>T
NM_000500.7:c.169G>T NP_000491.4:p.Gly57Trp
NM_001128590.3:c.169G>T NP_001122062.3:p.Gly57Trp
XM_011514314.1:c.-256G>T XP_011512616.1:n.-256G>T
NM_000500.9:c.169G>T MANE Select NP_000491.4:p.Gly57Trp
NM_001368143.1:c.-256G>T NP_001355072.1:n.-256G>T
NM_001368144.1:c.-166G>T NP_001355073.1:n.-166G>T
NM_001128590.4:c.169G>T NP_001122062.3:p.Gly57Trp
NM_001368143.2:c.-256G>T NP_001355072.1:n.-256G>T
NM_001368144.2:c.-166G>T NP_001355073.1:n.-166G>T