Canonical Allele Identifier: CA449728888

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039185-G-A
• MyVariant Identifiers: chr6:g.32006962G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039185G>A , CM000668.2:g.32039185G>A	GRCh38
NC_000006.11:g.32006962G>A , CM000668.1:g.32006962G>A	GRCh37
NC_000006.10:g.32114941G>A	NCBI36
NG_007941.2:g.5878G>A
NG_008337.2:g.75190C>T
NG_007941.3:g.5881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.384G>A MANE Select	ENSP00000496625.1:p.Leu128=
ENST00000418967.6:c.384G>A	ENSP00000408860.2:p.Leu128=
ENST00000435122.3:c.294G>A	ENSP00000415043.2:p.Leu98=
ENST00000464325.5:n.305G>A
ENST00000466779.5:c.*76G>A	ENSP00000417321.1:n.*76G>A
ENST00000466879.5:n.435G>A
ENST00000469053.5:c.*76G>A	ENSP00000418104.1:n.*76G>A
ENST00000471671.4:c.384G>A	ENSP00000418561.1:p.Leu128=
ENST00000478281.5:c.417G>A	ENSP00000419572.1:p.Leu139=
ENST00000479074.5:n.442G>A
ENST00000479730.5:n.539G>A
ENST00000483041.5:n.553G>A
ENST00000486063.5:n.564G>A
ENST00000488465.1:n.392G>A
NM_000500.7:c.384G>A	NP_000491.4:p.Leu128=
NM_001128590.3:c.294G>A	NP_001122062.3:p.Leu98=
XM_011514314.1:c.-22G>A	XP_011512616.1:n.-22G>A
NM_000500.9:c.384G>A MANE Select	NP_000491.4:p.Leu128=
NM_001368143.1:c.-22G>A	NP_001355072.1:n.-22G>A
NM_001368144.1:c.-22G>A	NP_001355073.1:n.-22G>A
NM_001128590.4:c.294G>A	NP_001122062.3:p.Leu98=
NM_001368143.2:c.-22G>A	NP_001355072.1:n.-22G>A
NM_001368144.2:c.-22G>A	NP_001355073.1:n.-22G>A