Canonical Allele Identifier: CA449818369
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038611-C-T
MyVariant Identifiers: chr6:g.32006388C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038611C>T , CM000668.2:g.32038611C>T GRCh38
NC_000006.11:g.32006388C>T , CM000668.1:g.32006388C>T GRCh37
NC_000006.10:g.32114367C>T NCBI36
NG_007941.2:g.5304C>T
NG_007941.3:g.5307C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.189C>T MANE Select ENSP00000496625.1:p.His63=
ENST00000418967.6:c.189C>T ENSP00000408860.2:p.His63=
ENST00000435122.3:c.189C>T ENSP00000415043.2:p.His63=
ENST00000464325.5:n.29C>T
ENST00000466779.5:c.189C>T ENSP00000417321.1:p.His63=
ENST00000469053.5:c.189C>T ENSP00000418104.1:p.His63=
ENST00000471671.4:c.189C>T ENSP00000418561.1:p.His63=
ENST00000478281.5:c.189C>T ENSP00000419572.1:p.His63=
ENST00000479074.5:n.247C>T
ENST00000479730.5:n.247C>T
ENST00000480027.1:n.242C>T
ENST00000483041.5:n.242C>T
ENST00000486063.5:n.272C>T
ENST00000488465.1:n.197C>T
NM_000500.7:c.189C>T NP_000491.4:p.His63=
NM_001128590.3:c.189C>T NP_001122062.3:p.His63=
XM_011514314.1:c.-236C>T XP_011512616.1:n.-236C>T
NM_000500.9:c.189C>T MANE Select NP_000491.4:p.His63=
NM_001368143.1:c.-236C>T NP_001355072.1:n.-236C>T
NM_001368144.1:c.-146C>T NP_001355073.1:n.-146C>T
NM_001128590.4:c.189C>T NP_001122062.3:p.His63=
NM_001368143.2:c.-236C>T NP_001355072.1:n.-236C>T
NM_001368144.2:c.-146C>T NP_001355073.1:n.-146C>T