Canonical Allele Identifier: CA363499416
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1776003720

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038600T>A , CM000668.2:g.32038600T>A GRCh38
NC_000006.11:g.32006377T>A , CM000668.1:g.32006377T>A GRCh37
NC_000006.10:g.32114356T>A NCBI36
NG_007941.2:g.5293T>A
NG_007941.3:g.5296T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.178T>A MANE Select ENSP00000496625.1:p.Tyr60Asn
ENST00000418967.6:c.178T>A ENSP00000408860.2:p.Tyr60Asn
ENST00000435122.3:c.178T>A ENSP00000415043.2:p.Tyr60Asn
ENST00000464325.5:n.18T>A
ENST00000466779.5:c.178T>A ENSP00000417321.1:p.Tyr60Asn
ENST00000469053.5:c.178T>A ENSP00000418104.1:p.Tyr60Asn
ENST00000471671.4:c.178T>A ENSP00000418561.1:p.Tyr60Asn
ENST00000478281.5:c.178T>A ENSP00000419572.1:p.Tyr60Asn
ENST00000479074.5:n.236T>A
ENST00000479730.5:n.236T>A
ENST00000480027.1:n.231T>A
ENST00000483041.5:n.231T>A
ENST00000486063.5:n.261T>A
ENST00000488465.1:n.186T>A
NM_000500.7:c.178T>A NP_000491.4:p.Tyr60Asn
NM_001128590.3:c.178T>A NP_001122062.3:p.Tyr60Asn
XM_011514314.1:c.-247T>A XP_011512616.1:n.-247T>A
NM_000500.9:c.178T>A MANE Select NP_000491.4:p.Tyr60Asn
NM_001368143.1:c.-247T>A NP_001355072.1:n.-247T>A
NM_001368144.1:c.-157T>A NP_001355073.1:n.-157T>A
NM_001128590.4:c.178T>A NP_001122062.3:p.Tyr60Asn
NM_001368143.2:c.-247T>A NP_001355072.1:n.-247T>A
NM_001368144.2:c.-157T>A NP_001355073.1:n.-157T>A