Canonical Allele Identifier: CA2678089097
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040304-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040304C>T , CM000668.2:g.32040304C>T GRCh38
NC_000006.11:g.32008081C>T , CM000668.1:g.32008081C>T GRCh37
NC_000006.10:g.32116060C>T NCBI36
NG_007941.2:g.6997C>T
NG_008337.2:g.74071G>A
NG_007941.3:g.7000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.939+99C>T MANE Select ENSP00000496625.1:n.939+99C>T
ENST00000418967.6:c.939+99C>T ENSP00000408860.2:n.939+99C>T
ENST00000435122.3:c.849+99C>T ENSP00000415043.2:n.849+99C>T
ENST00000479074.5:n.997+99C>T
ENST00000479730.5:n.1055+99C>T
ENST00000483041.5:n.1108+99C>T
ENST00000486063.5:n.919-102C>T
NM_000500.7:c.939+99C>T NP_000491.4:n.939+99C>T
NM_001128590.3:c.849+99C>T NP_001122062.3:n.849+99C>T
XM_011514314.1:c.534+99C>T XP_011512616.1:n.534+99C>T
NM_000500.9:c.939+99C>T MANE Select NP_000491.4:n.939+99C>T
NM_001368143.1:c.534+99C>T NP_001355072.1:n.534+99C>T
NM_001368144.1:c.534+99C>T NP_001355073.1:n.534+99C>T
NM_001128590.4:c.849+99C>T NP_001122062.3:n.849+99C>T
NM_001368143.2:c.534+99C>T NP_001355072.1:n.534+99C>T
NM_001368144.2:c.534+99C>T NP_001355073.1:n.534+99C>T