Canonical Allele Identifier: CA449818940
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008493C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040716C>T , CM000668.2:g.32040716C>T GRCh38
NC_000006.11:g.32008493C>T , CM000668.1:g.32008493C>T GRCh37
NC_000006.10:g.32116472C>T NCBI36
NG_007941.2:g.7409C>T
NG_008337.2:g.73659G>A
NG_007941.3:g.7412C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1167C>T MANE Select ENSP00000496625.1:p.Leu389=
ENST00000418967.6:c.1167C>T ENSP00000408860.2:p.Leu389=
ENST00000435122.3:c.1077C>T ENSP00000415043.2:p.Leu359=
ENST00000479074.5:n.1308C>T
ENST00000479730.5:n.1283C>T
ENST00000483041.5:n.1336C>T
ENST00000486063.5:n.1146C>T
NM_000500.7:c.1167C>T NP_000491.4:p.Leu389=
NM_001128590.3:c.1077C>T NP_001122062.3:p.Leu359=
XM_011514314.1:c.762C>T XP_011512616.1:p.Leu254=
NM_000500.9:c.1167C>T MANE Select NP_000491.4:p.Leu389=
NM_001368143.1:c.762C>T NP_001355072.1:p.Leu254=
NM_001368144.1:c.762C>T NP_001355073.1:p.Leu254=
NM_001128590.4:c.1077C>T NP_001122062.3:p.Leu359=
NM_001368143.2:c.762C>T NP_001355072.1:p.Leu254=
NM_001368144.2:c.762C>T NP_001355073.1:p.Leu254=