Canonical Allele Identifier: CA363500760
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039103-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039103T>G , CM000668.2:g.32039103T>G GRCh38
NC_000006.11:g.32006880T>G , CM000668.1:g.32006880T>G GRCh37
NC_000006.10:g.32114859T>G NCBI36
NG_007941.2:g.5796T>G
NG_007941.3:g.5799T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.302T>G MANE Select ENSP00000496625.1:p.Val101Gly
ENST00000418967.6:c.302T>G ENSP00000408860.2:p.Val101Gly
ENST00000435122.3:c.212T>G ENSP00000415043.2:p.Val71Gly
ENST00000464325.5:n.230-7T>G
ENST00000466779.5:c.321T>G ENSP00000417321.1:p.Gly107=
ENST00000466879.5:n.353T>G
ENST00000469053.5:c.231T>G ENSP00000418104.1:p.Gly77=
ENST00000471671.4:c.302T>G ENSP00000418561.1:p.Val101Gly
ENST00000478281.5:c.335T>G ENSP00000419572.1:p.Val112Gly
ENST00000479074.5:n.360T>G
ENST00000479730.5:n.457T>G
ENST00000480027.1:n.637T>G
ENST00000483041.5:n.471T>G
ENST00000486063.5:n.482T>G
ENST00000488465.1:n.310T>G
NM_000500.7:c.302T>G NP_000491.4:p.Val101Gly
NM_001128590.3:c.212T>G NP_001122062.3:p.Val71Gly
XM_011514314.1:c.-104T>G XP_011512616.1:n.-104T>G
NM_000500.9:c.302T>G MANE Select NP_000491.4:p.Val101Gly
NM_001368143.1:c.-104T>G NP_001355072.1:n.-104T>G
NM_001368144.1:c.-104T>G NP_001355073.1:n.-104T>G
NM_001128590.4:c.212T>G NP_001122062.3:p.Val71Gly
NM_001368143.2:c.-104T>G NP_001355072.1:n.-104T>G
NM_001368144.2:c.-104T>G NP_001355073.1:n.-104T>G