Canonical Allele Identifier: CA449818900
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32008475A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040698A>T , CM000668.2:g.32040698A>T GRCh38
NC_000006.11:g.32008475A>T , CM000668.1:g.32008475A>T GRCh37
NC_000006.10:g.32116454A>T NCBI36
NG_007941.2:g.7391A>T
NG_008337.2:g.73677T>A
NG_007941.3:g.7394A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1149A>T MANE Select ENSP00000496625.1:p.Thr383=
ENST00000418967.6:c.1149A>T ENSP00000408860.2:p.Thr383=
ENST00000435122.3:c.1059A>T ENSP00000415043.2:p.Thr353=
ENST00000479074.5:n.1290A>T
ENST00000479730.5:n.1265A>T
ENST00000483041.5:n.1318A>T
ENST00000486063.5:n.1128A>T
NM_000500.7:c.1149A>T NP_000491.4:p.Thr383=
NM_001128590.3:c.1059A>T NP_001122062.3:p.Thr353=
XM_011514314.1:c.744A>T XP_011512616.1:p.Thr248=
NM_000500.9:c.1149A>T MANE Select NP_000491.4:p.Thr383=
NM_001368143.1:c.744A>T NP_001355072.1:p.Thr248=
NM_001368144.1:c.744A>T NP_001355073.1:p.Thr248=
NM_001128590.4:c.1059A>T NP_001122062.3:p.Thr353=
NM_001368143.2:c.744A>T NP_001355072.1:p.Thr248=
NM_001368144.2:c.744A>T NP_001355073.1:p.Thr248=