Canonical Allele Identifier: CA363502058

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007018T>A (hg19) ; chr6:g.32039241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039241T>A , CM000668.2:g.32039241T>A	GRCh38
NC_000006.11:g.32007018T>A , CM000668.1:g.32007018T>A	GRCh37
NC_000006.10:g.32114997T>A	NCBI36
NG_007941.2:g.5934T>A
NG_008337.2:g.75134A>T
NG_007941.3:g.5937T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.440T>A MANE Select	ENSP00000496625.1:p.Phe147Tyr
ENST00000418967.6:c.440T>A	ENSP00000408860.2:p.Phe147Tyr
ENST00000435122.3:c.350T>A	ENSP00000415043.2:p.Phe117Tyr
ENST00000462278.1:n.28T>A
ENST00000464325.5:n.361T>A
ENST00000466779.5:c.*132T>A	ENSP00000417321.1:n.*132T>A
ENST00000466879.5:n.491T>A
ENST00000469053.5:c.*132T>A	ENSP00000418104.1:n.*132T>A
ENST00000471671.4:c.440T>A	ENSP00000418561.1:p.Phe147Tyr
ENST00000478281.5:c.473T>A	ENSP00000419572.1:p.Phe158Tyr
ENST00000479074.5:n.498T>A
ENST00000479730.5:n.595T>A
ENST00000483041.5:n.609T>A
ENST00000486063.5:n.620T>A
ENST00000488465.1:n.448T>A
NM_000500.7:c.440T>A	NP_000491.4:p.Phe147Tyr
NM_001128590.3:c.350T>A	NP_001122062.3:p.Phe117Tyr
XM_011514314.1:c.35T>A	XP_011512616.1:p.Phe12Tyr
NM_000500.9:c.440T>A MANE Select	NP_000491.4:p.Phe147Tyr
NM_001368143.1:c.35T>A	NP_001355072.1:p.Phe12Tyr
NM_001368144.1:c.35T>A	NP_001355073.1:p.Phe12Tyr
NM_001128590.4:c.350T>A	NP_001122062.3:p.Phe117Tyr
NM_001368143.2:c.35T>A	NP_001355072.1:p.Phe12Tyr
NM_001368144.2:c.35T>A	NP_001355073.1:p.Phe12Tyr