Canonical Allele Identifier: CA363503783

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039592-T-A
• MyVariant Identifiers: chr6:g.32007369T>A (hg19) ; chr6:g.32039592T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039592T>A , CM000668.2:g.32039592T>A	GRCh38
NC_000006.11:g.32007369T>A , CM000668.1:g.32007369T>A	GRCh37
NC_000006.10:g.32115348T>A	NCBI36
NG_007941.2:g.6285T>A
NG_008337.2:g.74783A>T
NG_007941.3:g.6288T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.596T>A MANE Select	ENSP00000496625.1:p.Leu199Ter
ENST00000418967.6:c.596T>A	ENSP00000408860.2:p.Leu199Ter
ENST00000435122.3:c.506T>A	ENSP00000415043.2:p.Leu169Ter
ENST00000462278.1:n.184T>A
ENST00000464325.5:n.517T>A
ENST00000466779.5:c.*288T>A	ENSP00000417321.1:n.*288T>A
ENST00000466879.5:n.647T>A
ENST00000469053.5:c.*288T>A	ENSP00000418104.1:n.*288T>A
ENST00000471671.4:c.557T>A	ENSP00000418561.1:p.Leu186Ter
ENST00000479074.5:n.654T>A
ENST00000479730.5:n.712T>A
ENST00000483041.5:n.765T>A
ENST00000486063.5:n.776T>A
NM_000500.7:c.596T>A	NP_000491.4:p.Leu199Ter
NM_001128590.3:c.506T>A	NP_001122062.3:p.Leu169Ter
XM_011514314.1:c.191T>A	XP_011512616.1:p.Leu64Ter
NM_000500.9:c.596T>A MANE Select	NP_000491.4:p.Leu199Ter
NM_001368143.1:c.191T>A	NP_001355072.1:p.Leu64Ter
NM_001368144.1:c.191T>A	NP_001355073.1:p.Leu64Ter
NM_001128590.4:c.506T>A	NP_001122062.3:p.Leu169Ter
NM_001368143.2:c.191T>A	NP_001355072.1:p.Leu64Ter
NM_001368144.2:c.191T>A	NP_001355073.1:p.Leu64Ter