Canonical Allele Identifier: CA363501920

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007006T>A (hg19) ; chr6:g.32039229T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039229T>A , CM000668.2:g.32039229T>A	GRCh38
NC_000006.11:g.32007006T>A , CM000668.1:g.32007006T>A	GRCh37
NC_000006.10:g.32114985T>A	NCBI36
NG_007941.2:g.5922T>A
NG_008337.2:g.75146A>T
NG_007941.3:g.5925T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.428T>A MANE Select	ENSP00000496625.1:p.Leu143Gln
ENST00000418967.6:c.428T>A	ENSP00000408860.2:p.Leu143Gln
ENST00000435122.3:c.338T>A	ENSP00000415043.2:p.Leu113Gln
ENST00000462278.1:n.16T>A
ENST00000464325.5:n.349T>A
ENST00000466779.5:c.*120T>A	ENSP00000417321.1:n.*120T>A
ENST00000466879.5:n.479T>A
ENST00000469053.5:c.*120T>A	ENSP00000418104.1:n.*120T>A
ENST00000471671.4:c.428T>A	ENSP00000418561.1:p.Leu143Gln
ENST00000478281.5:c.461T>A	ENSP00000419572.1:p.Leu154Gln
ENST00000479074.5:n.486T>A
ENST00000479730.5:n.583T>A
ENST00000483041.5:n.597T>A
ENST00000486063.5:n.608T>A
ENST00000488465.1:n.436T>A
NM_000500.7:c.428T>A	NP_000491.4:p.Leu143Gln
NM_001128590.3:c.338T>A	NP_001122062.3:p.Leu113Gln
XM_011514314.1:c.23T>A	XP_011512616.1:p.Leu8Gln
NM_000500.9:c.428T>A MANE Select	NP_000491.4:p.Leu143Gln
NM_001368143.1:c.23T>A	NP_001355072.1:p.Leu8Gln
NM_001368144.1:c.23T>A	NP_001355073.1:p.Leu8Gln
NM_001128590.4:c.338T>A	NP_001122062.3:p.Leu113Gln
NM_001368143.2:c.23T>A	NP_001355072.1:p.Leu8Gln
NM_001368144.2:c.23T>A	NP_001355073.1:p.Leu8Gln