Canonical Allele Identifier: CA1087498594
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v3: 6-32039252-A-T
gnomAD v4: 6-32039252-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039252A>T , CM000668.2:g.32039252A>T GRCh38
NC_000006.11:g.32007029A>T , CM000668.1:g.32007029A>T GRCh37
NC_000006.10:g.32115008A>T NCBI36
NG_007941.2:g.5945A>T
NG_008337.2:g.75123T>A
NG_007941.3:g.5948A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.447+4A>T MANE Select ENSP00000496625.1:n.447+4A>T
ENST00000418967.6:c.447+4A>T ENSP00000408860.2:n.447+4A>T
ENST00000435122.3:c.357+4A>T ENSP00000415043.2:n.357+4A>T
ENST00000462278.1:n.35+4A>T
ENST00000464325.5:n.368+4A>T
ENST00000466779.5:c.*139+4A>T ENSP00000417321.1:n.*139+4A>T
ENST00000466879.5:n.498+4A>T
ENST00000469053.5:c.*139+4A>T ENSP00000418104.1:n.*139+4A>T
ENST00000471671.4:c.447+4A>T ENSP00000418561.1:n.447+4A>T
ENST00000478281.5:c.480+4A>T ENSP00000419572.1:n.480+4A>T
ENST00000479074.5:n.505+4A>T
ENST00000479730.5:n.602+4A>T
ENST00000483041.5:n.616+4A>T
ENST00000486063.5:n.627+4A>T
ENST00000488465.1:n.455+4A>T
NM_000500.7:c.447+4A>T NP_000491.4:n.447+4A>T
NM_001128590.3:c.357+4A>T NP_001122062.3:n.357+4A>T
XM_011514314.1:c.42+4A>T XP_011512616.1:n.42+4A>T
NM_000500.9:c.447+4A>T MANE Select NP_000491.4:n.447+4A>T
NM_001368143.1:c.42+4A>T NP_001355072.1:n.42+4A>T
NM_001368144.1:c.42+4A>T NP_001355073.1:n.42+4A>T
NM_001128590.4:c.357+4A>T NP_001122062.3:n.357+4A>T
NM_001368143.2:c.42+4A>T NP_001355072.1:n.42+4A>T
NM_001368144.2:c.42+4A>T NP_001355073.1:n.42+4A>T