Canonical Allele Identifier: CA363501100

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006933G>A (hg19) ; chr6:g.32039156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039156G>A , CM000668.2:g.32039156G>A	GRCh38
NC_000006.11:g.32006933G>A , CM000668.1:g.32006933G>A	GRCh37
NC_000006.10:g.32114912G>A	NCBI36
NG_007941.2:g.5849G>A
NG_008337.2:g.75219C>T
NG_007941.3:g.5852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.355G>A MANE Select	ENSP00000496625.1:p.Ala119Thr
ENST00000418967.6:c.355G>A	ENSP00000408860.2:p.Ala119Thr
ENST00000435122.3:c.265G>A	ENSP00000415043.2:p.Ala89Thr
ENST00000464325.5:n.276G>A
ENST00000466779.5:c.*47G>A	ENSP00000417321.1:n.*47G>A
ENST00000466879.5:n.406G>A
ENST00000469053.5:c.*47G>A	ENSP00000418104.1:n.*47G>A
ENST00000471671.4:c.355G>A	ENSP00000418561.1:p.Ala119Thr
ENST00000478281.5:c.388G>A	ENSP00000419572.1:p.Ala130Thr
ENST00000479074.5:n.413G>A
ENST00000479730.5:n.510G>A
ENST00000483041.5:n.524G>A
ENST00000486063.5:n.535G>A
ENST00000488465.1:n.363G>A
NM_000500.7:c.355G>A	NP_000491.4:p.Ala119Thr
NM_001128590.3:c.265G>A	NP_001122062.3:p.Ala89Thr
XM_011514314.1:c.-51G>A	XP_011512616.1:n.-51G>A
NM_000500.9:c.355G>A MANE Select	NP_000491.4:p.Ala119Thr
NM_001368143.1:c.-51G>A	NP_001355072.1:n.-51G>A
NM_001368144.1:c.-51G>A	NP_001355073.1:n.-51G>A
NM_001128590.4:c.265G>A	NP_001122062.3:p.Ala89Thr
NM_001368143.2:c.-51G>A	NP_001355072.1:n.-51G>A
NM_001368144.2:c.-51G>A	NP_001355073.1:n.-51G>A