Canonical Allele Identifier: CA2678089063
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040258-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040258G>T , CM000668.2:g.32040258G>T GRCh38
NC_000006.11:g.32008035G>T , CM000668.1:g.32008035G>T GRCh37
NC_000006.10:g.32116014G>T NCBI36
NG_007941.2:g.6951G>T
NG_008337.2:g.74117C>A
NG_007941.3:g.6954G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.939+53G>T MANE Select ENSP00000496625.1:n.939+53G>T
ENST00000418967.6:c.939+53G>T ENSP00000408860.2:n.939+53G>T
ENST00000435122.3:c.849+53G>T ENSP00000415043.2:n.849+53G>T
ENST00000479074.5:n.997+53G>T
ENST00000479730.5:n.1055+53G>T
ENST00000483041.5:n.1108+53G>T
ENST00000486063.5:n.919-148G>T
NM_000500.7:c.939+53G>T NP_000491.4:n.939+53G>T
NM_001128590.3:c.849+53G>T NP_001122062.3:n.849+53G>T
XM_011514314.1:c.534+53G>T XP_011512616.1:n.534+53G>T
NM_000500.9:c.939+53G>T MANE Select NP_000491.4:n.939+53G>T
NM_001368143.1:c.534+53G>T NP_001355072.1:n.534+53G>T
NM_001368144.1:c.534+53G>T NP_001355073.1:n.534+53G>T
NM_001128590.4:c.849+53G>T NP_001122062.3:n.849+53G>T
NM_001368143.2:c.534+53G>T NP_001355072.1:n.534+53G>T
NM_001368144.2:c.534+53G>T NP_001355073.1:n.534+53G>T