Canonical Allele Identifier: CA2678088250
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038394-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038394C>T , CM000668.2:g.32038394C>T GRCh38
NC_000006.11:g.32006171C>T , CM000668.1:g.32006171C>T GRCh37
NC_000006.10:g.32114150C>T NCBI36
NG_007941.2:g.5090C>T
NG_007941.3:g.5090C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000418967.6:c.-29C>T ENSP00000408860.2:n.-29C>T
ENST00000466779.5:c.-29C>T ENSP00000417321.1:n.-29C>T
ENST00000478281.5:c.-29C>T ENSP00000419572.1:n.-29C>T
ENST00000479074.5:n.30C>T
ENST00000479730.5:n.30C>T
ENST00000480027.1:n.25C>T
ENST00000483041.5:n.25C>T
ENST00000486063.5:n.55C>T
NM_000500.7:c.-29C>T NP_000491.4:n.-29C>T
NM_001128590.3:c.-29C>T NP_001122062.3:n.-29C>T
XM_011514314.1:c.-453C>T XP_011512616.1:n.-453C>T
NM_001368143.1:c.-453C>T NP_001355072.1:n.-453C>T
NM_001368144.1:c.-363C>T NP_001355073.1:n.-363C>T