Canonical Allele Identifier: CA3732409

Gene: CYP21A2

Linked Data

• dbSNP Id: rs541292262
• ExAC: 6:32007151 G / A
• gnomAD v2: 6-32007151-G-A
• gnomAD v3: 6-32039374-G-A
• gnomAD v4: 6-32039374-G-A
• MyVariant Identifiers: chr6:g.32007151G>A (hg19) ; chr6:g.32039374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039374G>A , CM000668.2:g.32039374G>A	GRCh38
NC_000006.11:g.32007151G>A , CM000668.1:g.32007151G>A	GRCh37
NC_000006.10:g.32115130G>A	NCBI36
NG_007941.2:g.6067G>A
NG_008337.2:g.75001C>T
NG_007941.3:g.6070G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.466G>A MANE Select	ENSP00000496625.1:p.Gly156Ser
ENST00000418967.6:c.466G>A	ENSP00000408860.2:p.Gly156Ser
ENST00000435122.3:c.376G>A	ENSP00000415043.2:p.Gly126Ser
ENST00000462278.1:n.54G>A
ENST00000464325.5:n.387G>A
ENST00000466779.5:c.*158G>A	ENSP00000417321.1:n.*158G>A
ENST00000466879.5:n.517G>A
ENST00000469053.5:c.*158G>A	ENSP00000418104.1:n.*158G>A
ENST00000471671.4:c.466G>A	ENSP00000418561.1:p.Gly156Ser
ENST00000478281.5:c.499G>A	ENSP00000419572.1:p.Gly167Ser
ENST00000479074.5:n.524G>A
ENST00000479730.5:n.621G>A
ENST00000483041.5:n.635G>A
ENST00000486063.5:n.646G>A
ENST00000488465.1:n.474G>A
NM_000500.7:c.466G>A	NP_000491.4:p.Gly156Ser
NM_001128590.3:c.376G>A	NP_001122062.3:p.Gly126Ser
XM_011514314.1:c.61G>A	XP_011512616.1:p.Gly21Ser
NM_000500.9:c.466G>A MANE Select	NP_000491.4:p.Gly156Ser
NM_001368143.1:c.61G>A	NP_001355072.1:p.Gly21Ser
NM_001368144.1:c.61G>A	NP_001355073.1:p.Gly21Ser
NM_001128590.4:c.376G>A	NP_001122062.3:p.Gly126Ser
NM_001368143.2:c.61G>A	NP_001355072.1:p.Gly21Ser
NM_001368144.2:c.61G>A	NP_001355073.1:p.Gly21Ser