Canonical Allele Identifier: CA1619399843
Gene: CYP21A2 HGNC NCBI
TNXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041170T= , CM000668.2:g.32041170T= GRCh38
NC_000006.11:g.32008947T= , CM000668.1:g.32008947T= GRCh37
NC_000006.10:g.32116926T= NCBI36
NG_007941.2:g.7863T=
NG_008337.2:g.73205A=
NG_007941.3:g.7866T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.*36T= (CYP21A2) MANE Select ENSP00000496625.1:n.*36T=
ENST00000644971.2:c.*179A= (TNXB) MANE Select ENSP00000496448.1:n.*179A=
ENST00000647633.1:c.*179A= (TNXB) ENSP00000497649.1:n.*179A=
ENST00000375244.7:c.*179A= (TNXB) ENSP00000364393.3:n.*179A=
ENST00000418967.6:c.*36T= (CYP21A2) ENSP00000408860.2:n.*36T=
ENST00000435122.3:c.*36T= (CYP21A2) ENSP00000415043.2:n.*36T=
ENST00000451343.4:c.*179A= (TNXB) ENSP00000407685.1:n.*179A=
ENST00000479074.5:n.1665T= (CYP21A2)
ENST00000479730.5:n.1640T= (CYP21A2)
ENST00000483041.5:n.1693T= (CYP21A2)
ENST00000486063.5:n.1503T= (CYP21A2)
ENST00000490077.5:n.2741A= (TNXB)
ENST00000611016.2:c.6068A= (TNXB) ENSP00000483409.1:n.6068A=
NM_000500.7:c.*36T= (CYP21A2) NP_000491.4:n.*36T=
NM_001128590.3:c.*36T= (CYP21A2) NP_001122062.3:n.*36T=
NM_019105.6:c.*179A= (TNXB) NP_061978.6:n.*179A=
NM_032470.3:c.*179A= (TNXB) NP_115859.2:n.*179A=
XM_011514314.1:c.*36T= (CYP21A2) XP_011512616.1:n.*36T=
NM_000500.9:c.*36T= (CYP21A2) MANE Select NP_000491.4:n.*36T=
NM_001365276.1:c.*179A= (TNXB) NP_001352205.1:n.*179A=
NM_019105.7:c.*179A= (TNXB) NP_061978.6:n.*179A=
NM_001365276.2:c.*179A= (TNXB) MANE Select NP_001352205.1:n.*179A=
NM_001368143.1:c.*36T= (CYP21A2) NP_001355072.1:n.*36T=
NM_001368144.1:c.*36T= (CYP21A2) NP_001355073.1:n.*36T=
NM_019105.8:c.*179A= (TNXB) NP_061978.6:n.*179A=
NM_001128590.4:c.*36T= (CYP21A2) NP_001122062.3:n.*36T=
NM_001368143.2:c.*36T= (CYP21A2) NP_001355072.1:n.*36T=
NM_001368144.2:c.*36T= (CYP21A2) NP_001355073.1:n.*36T=
NM_032470.4:c.*179A= (TNXB) NP_115859.2:n.*179A=