Canonical Allele Identifier: CA363502679

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039381-C-A
• MyVariant Identifiers: chr6:g.32007158C>A (hg19) ; chr6:g.32039381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039381C>A , CM000668.2:g.32039381C>A	GRCh38
NC_000006.11:g.32007158C>A , CM000668.1:g.32007158C>A	GRCh37
NC_000006.10:g.32115137C>A	NCBI36
NG_007941.2:g.6074C>A
NG_008337.2:g.74994G>T
NG_007941.3:g.6077C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.473C>A MANE Select	ENSP00000496625.1:p.Pro158His
ENST00000418967.6:c.473C>A	ENSP00000408860.2:p.Pro158His
ENST00000435122.3:c.383C>A	ENSP00000415043.2:p.Pro128His
ENST00000462278.1:n.61C>A
ENST00000464325.5:n.394C>A
ENST00000466779.5:c.*165C>A	ENSP00000417321.1:n.*165C>A
ENST00000466879.5:n.524C>A
ENST00000469053.5:c.*165C>A	ENSP00000418104.1:n.*165C>A
ENST00000471671.4:c.473C>A	ENSP00000418561.1:p.Pro158His
ENST00000478281.5:c.506C>A	ENSP00000419572.1:p.Pro169His
ENST00000479074.5:n.531C>A
ENST00000479730.5:n.628C>A
ENST00000483041.5:n.642C>A
ENST00000486063.5:n.653C>A
ENST00000488465.1:n.481C>A
NM_000500.7:c.473C>A	NP_000491.4:p.Pro158His
NM_001128590.3:c.383C>A	NP_001122062.3:p.Pro128His
XM_011514314.1:c.68C>A	XP_011512616.1:p.Pro23His
NM_000500.9:c.473C>A MANE Select	NP_000491.4:p.Pro158His
NM_001368143.1:c.68C>A	NP_001355072.1:p.Pro23His
NM_001368144.1:c.68C>A	NP_001355073.1:p.Pro23His
NM_001128590.4:c.383C>A	NP_001122062.3:p.Pro128His
NM_001368143.2:c.68C>A	NP_001355072.1:p.Pro23His
NM_001368144.2:c.68C>A	NP_001355073.1:p.Pro23His