Canonical Allele Identifier: CA2678088231
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038364-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038364G>T , CM000668.2:g.32038364G>T GRCh38
NC_000006.11:g.32006141G>T , CM000668.1:g.32006141G>T GRCh37
NC_000006.10:g.32114120G>T NCBI36
NG_007941.2:g.5060G>T
NG_007941.3:g.5060G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000418967.6:c.-59G>T ENSP00000408860.2:n.-59G>T
ENST00000466779.5:c.-59G>T ENSP00000417321.1:n.-59G>T
ENST00000486063.5:n.25G>T
NM_000500.7:c.-59G>T NP_000491.4:n.-59G>T
NM_001128590.3:c.-59G>T NP_001122062.3:n.-59G>T
NM_001368143.1:c.-483G>T NP_001355072.1:n.-483G>T
NM_001368144.1:c.-393G>T NP_001355073.1:n.-393G>T