Canonical Allele Identifier: CA363505394
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039819A>C , CM000668.2:g.32039819A>C GRCh38
NC_000006.11:g.32007596A>C , CM000668.1:g.32007596A>C GRCh37
NC_000006.10:g.32115575A>C NCBI36
NG_007941.2:g.6512A>C
NG_008337.2:g.74556T>G
NG_007941.3:g.6515A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.722A>C MANE Select ENSP00000496625.1:p.Gln241Pro
ENST00000418967.6:c.722A>C ENSP00000408860.2:p.Gln241Pro
ENST00000435122.3:c.632A>C ENSP00000415043.2:p.Gln211Pro
ENST00000462278.1:n.411A>C
ENST00000466779.5:c.*414A>C ENSP00000417321.1:n.*414A>C
ENST00000466879.5:n.773A>C
ENST00000479074.5:n.780A>C
ENST00000479730.5:n.838A>C
ENST00000483041.5:n.891A>C
ENST00000486063.5:n.902A>C
NM_000500.7:c.722A>C NP_000491.4:p.Gln241Pro
NM_001128590.3:c.632A>C NP_001122062.3:p.Gln211Pro
XM_011514314.1:c.317A>C XP_011512616.1:p.Gln106Pro
NM_000500.9:c.722A>C MANE Select NP_000491.4:p.Gln241Pro
NM_001368143.1:c.317A>C NP_001355072.1:p.Gln106Pro
NM_001368144.1:c.317A>C NP_001355073.1:p.Gln106Pro
NM_001128590.4:c.632A>C NP_001122062.3:p.Gln211Pro
NM_001368143.2:c.317A>C NP_001355072.1:p.Gln106Pro
NM_001368144.2:c.317A>C NP_001355073.1:p.Gln106Pro