Canonical Allele Identifier: CA449818807
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008303C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040526C>T , CM000668.2:g.32040526C>T GRCh38
NC_000006.11:g.32008303C>T , CM000668.1:g.32008303C>T GRCh37
NC_000006.10:g.32116282C>T NCBI36
NG_007941.2:g.7219C>T
NG_008337.2:g.73849G>A
NG_007941.3:g.7222C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1060C>T MANE Select ENSP00000496625.1:p.Leu354=
ENST00000418967.6:c.1060C>T ENSP00000408860.2:p.Leu354=
ENST00000435122.3:c.970C>T ENSP00000415043.2:p.Leu324=
ENST00000479074.5:n.1118C>T
ENST00000479730.5:n.1176C>T
ENST00000483041.5:n.1229C>T
ENST00000486063.5:n.1039C>T
NM_000500.7:c.1060C>T NP_000491.4:p.Leu354=
NM_001128590.3:c.970C>T NP_001122062.3:p.Leu324=
XM_011514314.1:c.655C>T XP_011512616.1:p.Leu219=
NM_000500.9:c.1060C>T MANE Select NP_000491.4:p.Leu354=
NM_001368143.1:c.655C>T NP_001355072.1:p.Leu219=
NM_001368144.1:c.655C>T NP_001355073.1:p.Leu219=
NM_001128590.4:c.970C>T NP_001122062.3:p.Leu324=
NM_001368143.2:c.655C>T NP_001355072.1:p.Leu219=
NM_001368144.2:c.655C>T NP_001355073.1:p.Leu219=