Canonical Allele Identifier: CA2678088248
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038393-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038393G>T , CM000668.2:g.32038393G>T GRCh38
NC_000006.11:g.32006170G>T , CM000668.1:g.32006170G>T GRCh37
NC_000006.10:g.32114149G>T NCBI36
NG_007941.2:g.5089G>T
NG_007941.3:g.5089G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000418967.6:c.-30G>T ENSP00000408860.2:n.-30G>T
ENST00000466779.5:c.-30G>T ENSP00000417321.1:n.-30G>T
ENST00000478281.5:c.-30G>T ENSP00000419572.1:n.-30G>T
ENST00000479074.5:n.29G>T
ENST00000479730.5:n.29G>T
ENST00000480027.1:n.24G>T
ENST00000483041.5:n.24G>T
ENST00000486063.5:n.54G>T
NM_000500.7:c.-30G>T NP_000491.4:n.-30G>T
NM_001128590.3:c.-30G>T NP_001122062.3:n.-30G>T
XM_011514314.1:c.-454G>T XP_011512616.1:n.-454G>T
NM_001368143.1:c.-454G>T NP_001355072.1:n.-454G>T
NM_001368144.1:c.-364G>T NP_001355073.1:n.-364G>T