Canonical Allele Identifier: CA363500953

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006909G>A (hg19) ; chr6:g.32039132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039132G>A , CM000668.2:g.32039132G>A	GRCh38
NC_000006.11:g.32006909G>A , CM000668.1:g.32006909G>A	GRCh37
NC_000006.10:g.32114888G>A	NCBI36
NG_007941.2:g.5825G>A
NG_007941.3:g.5828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.331G>A MANE Select	ENSP00000496625.1:p.Gly111Arg
ENST00000418967.6:c.331G>A	ENSP00000408860.2:p.Gly111Arg
ENST00000435122.3:c.241G>A	ENSP00000415043.2:p.Gly81Arg
ENST00000464325.5:n.252G>A
ENST00000466779.5:c.*23G>A	ENSP00000417321.1:n.*23G>A
ENST00000466879.5:n.382G>A
ENST00000469053.5:c.*23G>A	ENSP00000418104.1:n.*23G>A
ENST00000471671.4:c.331G>A	ENSP00000418561.1:p.Gly111Arg
ENST00000478281.5:c.364G>A	ENSP00000419572.1:p.Gly122Arg
ENST00000479074.5:n.389G>A
ENST00000479730.5:n.486G>A
ENST00000483041.5:n.500G>A
ENST00000486063.5:n.511G>A
ENST00000488465.1:n.339G>A
NM_000500.7:c.331G>A	NP_000491.4:p.Gly111Arg
NM_001128590.3:c.241G>A	NP_001122062.3:p.Gly81Arg
XM_011514314.1:c.-75G>A	XP_011512616.1:n.-75G>A
NM_000500.9:c.331G>A MANE Select	NP_000491.4:p.Gly111Arg
NM_001368143.1:c.-75G>A	NP_001355072.1:n.-75G>A
NM_001368144.1:c.-75G>A	NP_001355073.1:n.-75G>A
NM_001128590.4:c.241G>A	NP_001122062.3:p.Gly81Arg
NM_001368143.2:c.-75G>A	NP_001355072.1:n.-75G>A
NM_001368144.2:c.-75G>A	NP_001355073.1:n.-75G>A