Canonical Allele Identifier: CA363506809

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007876T>A (hg19) ; chr6:g.32040099T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040099T>A , CM000668.2:g.32040099T>A	GRCh38
NC_000006.11:g.32007876T>A , CM000668.1:g.32007876T>A	GRCh37
NC_000006.10:g.32115855T>A	NCBI36
NG_007941.2:g.6792T>A
NG_008337.2:g.74276A>T
NG_007941.3:g.6795T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.833T>A MANE Select	ENSP00000496625.1:p.Leu278Gln
ENST00000418967.6:c.833T>A	ENSP00000408860.2:p.Leu278Gln
ENST00000435122.3:c.743T>A	ENSP00000415043.2:p.Leu248Gln
ENST00000479074.5:n.891T>A
ENST00000479730.5:n.949T>A
ENST00000483041.5:n.1002T>A
ENST00000486063.5:n.918+264T>A
NM_000500.7:c.833T>A	NP_000491.4:p.Leu278Gln
NM_001128590.3:c.743T>A	NP_001122062.3:p.Leu248Gln
XM_011514314.1:c.428T>A	XP_011512616.1:p.Leu143Gln
NM_000500.9:c.833T>A MANE Select	NP_000491.4:p.Leu278Gln
NM_001368143.1:c.428T>A	NP_001355072.1:p.Leu143Gln
NM_001368144.1:c.428T>A	NP_001355073.1:p.Leu143Gln
NM_001128590.4:c.743T>A	NP_001122062.3:p.Leu248Gln
NM_001368143.2:c.428T>A	NP_001355072.1:p.Leu143Gln
NM_001368144.2:c.428T>A	NP_001355073.1:p.Leu143Gln