Canonical Allele Identifier: CA363511292
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040705A>G , CM000668.2:g.32040705A>G GRCh38
NC_000006.11:g.32008482A>G , CM000668.1:g.32008482A>G GRCh37
NC_000006.10:g.32116461A>G NCBI36
NG_007941.2:g.7398A>G
NG_008337.2:g.73670T>C
NG_007941.3:g.7401A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1156A>G MANE Select ENSP00000496625.1:p.Ile386Val
ENST00000418967.6:c.1156A>G ENSP00000408860.2:p.Ile386Val
ENST00000435122.3:c.1066A>G ENSP00000415043.2:p.Ile356Val
ENST00000479074.5:n.1297A>G
ENST00000479730.5:n.1272A>G
ENST00000483041.5:n.1325A>G
ENST00000486063.5:n.1135A>G
NM_000500.7:c.1156A>G NP_000491.4:p.Ile386Val
NM_001128590.3:c.1066A>G NP_001122062.3:p.Ile356Val
XM_011514314.1:c.751A>G XP_011512616.1:p.Ile251Val
NM_000500.9:c.1156A>G MANE Select NP_000491.4:p.Ile386Val
NM_001368143.1:c.751A>G NP_001355072.1:p.Ile251Val
NM_001368144.1:c.751A>G NP_001355073.1:p.Ile251Val
NM_001128590.4:c.1066A>G NP_001122062.3:p.Ile356Val
NM_001368143.2:c.751A>G NP_001355072.1:p.Ile251Val
NM_001368144.2:c.751A>G NP_001355073.1:p.Ile251Val