Canonical Allele Identifier: CA449818794
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1776230692
MyVariant Identifiers: chr6:g.32008287C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040510C>A , CM000668.2:g.32040510C>A GRCh38
NC_000006.11:g.32008287C>A , CM000668.1:g.32008287C>A GRCh37
NC_000006.10:g.32116266C>A NCBI36
NG_007941.2:g.7203C>A
NG_008337.2:g.73865G>T
NG_007941.3:g.7206C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1044C>A MANE Select ENSP00000496625.1:p.Ala348=
ENST00000418967.6:c.1044C>A ENSP00000408860.2:p.Ala348=
ENST00000435122.3:c.954C>A ENSP00000415043.2:p.Ala318=
ENST00000479074.5:n.1102C>A
ENST00000479730.5:n.1160C>A
ENST00000483041.5:n.1213C>A
ENST00000486063.5:n.1023C>A
NM_000500.7:c.1044C>A NP_000491.4:p.Ala348=
NM_001128590.3:c.954C>A NP_001122062.3:p.Ala318=
XM_011514314.1:c.639C>A XP_011512616.1:p.Ala213=
NM_000500.9:c.1044C>A MANE Select NP_000491.4:p.Ala348=
NM_001368143.1:c.639C>A NP_001355072.1:p.Ala213=
NM_001368144.1:c.639C>A NP_001355073.1:p.Ala213=
NM_001128590.4:c.954C>A NP_001122062.3:p.Ala318=
NM_001368143.2:c.639C>A NP_001355072.1:p.Ala213=
NM_001368144.2:c.639C>A NP_001355073.1:p.Ala213=