Canonical Allele Identifier: CA449819030
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040755-A-G
MyVariant Identifiers: chr6:g.32008532A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040755A>G , CM000668.2:g.32040755A>G GRCh38
NC_000006.11:g.32008532A>G , CM000668.1:g.32008532A>G GRCh37
NC_000006.10:g.32116511A>G NCBI36
NG_007941.2:g.7448A>G
NG_008337.2:g.73620T>C
NG_007941.3:g.7451A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1206A>G MANE Select ENSP00000496625.1:p.Pro402=
ENST00000418967.6:c.1206A>G ENSP00000408860.2:p.Pro402=
ENST00000435122.3:c.1116A>G ENSP00000415043.2:p.Pro372=
ENST00000479074.5:n.1347A>G
ENST00000479730.5:n.1322A>G
ENST00000483041.5:n.1375A>G
ENST00000486063.5:n.1185A>G
NM_000500.7:c.1206A>G NP_000491.4:p.Pro402=
NM_001128590.3:c.1116A>G NP_001122062.3:p.Pro372=
XM_011514314.1:c.801A>G XP_011512616.1:p.Pro267=
NM_000500.9:c.1206A>G MANE Select NP_000491.4:p.Pro402=
NM_001368143.1:c.801A>G NP_001355072.1:p.Pro267=
NM_001368144.1:c.801A>G NP_001355073.1:p.Pro267=
NM_001128590.4:c.1116A>G NP_001122062.3:p.Pro372=
NM_001368143.2:c.801A>G NP_001355072.1:p.Pro267=
NM_001368144.2:c.801A>G NP_001355073.1:p.Pro267=