Canonical Allele Identifier: CA449729869
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32007958G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040181G>T , CM000668.2:g.32040181G>T GRCh38
NC_000006.11:g.32007958G>T , CM000668.1:g.32007958G>T GRCh37
NC_000006.10:g.32115937G>T NCBI36
NG_007941.2:g.6874G>T
NG_008337.2:g.74194C>A
NG_007941.3:g.6877G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.915G>T MANE Select ENSP00000496625.1:p.Val305=
ENST00000418967.6:c.915G>T ENSP00000408860.2:p.Val305=
ENST00000435122.3:c.825G>T ENSP00000415043.2:p.Val275=
ENST00000479074.5:n.973G>T
ENST00000479730.5:n.1031G>T
ENST00000483041.5:n.1084G>T
ENST00000486063.5:n.919-225G>T
NM_000500.7:c.915G>T NP_000491.4:p.Val305=
NM_001128590.3:c.825G>T NP_001122062.3:p.Val275=
XM_011514314.1:c.510G>T XP_011512616.1:p.Val170=
NM_000500.9:c.915G>T MANE Select NP_000491.4:p.Val305=
NM_001368143.1:c.510G>T NP_001355072.1:p.Val170=
NM_001368144.1:c.510G>T NP_001355073.1:p.Val170=
NM_001128590.4:c.825G>T NP_001122062.3:p.Val275=
NM_001368143.2:c.510G>T NP_001355072.1:p.Val170=
NM_001368144.2:c.510G>T NP_001355073.1:p.Val170=