Canonical Allele Identifier: CA363512540
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32041045-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041045C>T , CM000668.2:g.32041045C>T GRCh38
NC_000006.11:g.32008822C>T , CM000668.1:g.32008822C>T GRCh37
NC_000006.10:g.32116801C>T NCBI36
NG_007941.2:g.7738C>T
NG_008337.2:g.73330G>A
NG_007941.3:g.7741C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1399C>T MANE Select ENSP00000496625.1:p.His467Tyr
ENST00000418967.6:c.1399C>T ENSP00000408860.2:p.His467Tyr
ENST00000435122.3:c.1309C>T ENSP00000415043.2:p.His437Tyr
ENST00000479074.5:n.1540C>T
ENST00000479730.5:n.1515C>T
ENST00000483041.5:n.1568C>T
ENST00000486063.5:n.1378C>T
NM_000500.7:c.1399C>T NP_000491.4:p.His467Tyr
NM_001128590.3:c.1309C>T NP_001122062.3:p.His437Tyr
XM_011514314.1:c.994C>T XP_011512616.1:p.His332Tyr
NM_000500.9:c.1399C>T MANE Select NP_000491.4:p.His467Tyr
NM_001368143.1:c.994C>T NP_001355072.1:p.His332Tyr
NM_001368144.1:c.994C>T NP_001355073.1:p.His332Tyr
NM_001128590.4:c.1309C>T NP_001122062.3:p.His437Tyr
NM_001368143.2:c.994C>T NP_001355072.1:p.His332Tyr
NM_001368144.2:c.994C>T NP_001355073.1:p.His332Tyr