Canonical Allele Identifier: CA3732384

Gene: CYP21A2

Linked Data

• dbSNP Id: rs144083939
• ExAC: 6:32007001 G / A
• gnomAD v2: 6-32007001-G-A
• gnomAD v3: 6-32039224-G-A
• gnomAD v4: 6-32039224-G-A
• MyVariant Identifiers: chr6:g.32007001G>A (hg19) ; chr6:g.32039224G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039224G>A , CM000668.2:g.32039224G>A	GRCh38
NC_000006.11:g.32007001G>A , CM000668.1:g.32007001G>A	GRCh37
NC_000006.10:g.32114980G>A	NCBI36
NG_007941.2:g.5917G>A
NG_008337.2:g.75151C>T
NG_007941.3:g.5920G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.423G>A MANE Select	ENSP00000496625.1:p.Glu141=
ENST00000418967.6:c.423G>A	ENSP00000408860.2:p.Glu141=
ENST00000435122.3:c.333G>A	ENSP00000415043.2:p.Glu111=
ENST00000462278.1:n.11G>A
ENST00000464325.5:n.344G>A
ENST00000466779.5:c.*115G>A	ENSP00000417321.1:n.*115G>A
ENST00000466879.5:n.474G>A
ENST00000469053.5:c.*115G>A	ENSP00000418104.1:n.*115G>A
ENST00000471671.4:c.423G>A	ENSP00000418561.1:p.Glu141=
ENST00000478281.5:c.456G>A	ENSP00000419572.1:p.Glu152=
ENST00000479074.5:n.481G>A
ENST00000479730.5:n.578G>A
ENST00000483041.5:n.592G>A
ENST00000486063.5:n.603G>A
ENST00000488465.1:n.431G>A
NM_000500.7:c.423G>A	NP_000491.4:p.Glu141=
NM_001128590.3:c.333G>A	NP_001122062.3:p.Glu111=
XM_011514314.1:c.18G>A	XP_011512616.1:p.Glu6=
NM_000500.9:c.423G>A MANE Select	NP_000491.4:p.Glu141=
NM_001368143.1:c.18G>A	NP_001355072.1:p.Glu6=
NM_001368144.1:c.18G>A	NP_001355073.1:p.Glu6=
NM_001128590.4:c.333G>A	NP_001122062.3:p.Glu111=
NM_001368143.2:c.18G>A	NP_001355072.1:p.Glu6=
NM_001368144.2:c.18G>A	NP_001355073.1:p.Glu6=