Canonical Allele Identifier: CA449728840

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039173-C-G
• MyVariant Identifiers: chr6:g.32006950C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039173C>G , CM000668.2:g.32039173C>G	GRCh38
NC_000006.11:g.32006950C>G , CM000668.1:g.32006950C>G	GRCh37
NC_000006.10:g.32114929C>G	NCBI36
NG_007941.2:g.5866C>G
NG_008337.2:g.75202G>C
NG_007941.3:g.5869C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.372C>G MANE Select	ENSP00000496625.1:p.Thr124=
ENST00000418967.6:c.372C>G	ENSP00000408860.2:p.Thr124=
ENST00000435122.3:c.282C>G	ENSP00000415043.2:p.Thr94=
ENST00000464325.5:n.293C>G
ENST00000466779.5:c.*64C>G	ENSP00000417321.1:n.*64C>G
ENST00000466879.5:n.423C>G
ENST00000469053.5:c.*64C>G	ENSP00000418104.1:n.*64C>G
ENST00000471671.4:c.372C>G	ENSP00000418561.1:p.Thr124=
ENST00000478281.5:c.405C>G	ENSP00000419572.1:p.Thr135=
ENST00000479074.5:n.430C>G
ENST00000479730.5:n.527C>G
ENST00000483041.5:n.541C>G
ENST00000486063.5:n.552C>G
ENST00000488465.1:n.380C>G
NM_000500.7:c.372C>G	NP_000491.4:p.Thr124=
NM_001128590.3:c.282C>G	NP_001122062.3:p.Thr94=
XM_011514314.1:c.-34C>G	XP_011512616.1:n.-34C>G
NM_000500.9:c.372C>G MANE Select	NP_000491.4:p.Thr124=
NM_001368143.1:c.-34C>G	NP_001355072.1:n.-34C>G
NM_001368144.1:c.-34C>G	NP_001355073.1:n.-34C>G
NM_001128590.4:c.282C>G	NP_001122062.3:p.Thr94=
NM_001368143.2:c.-34C>G	NP_001355072.1:n.-34C>G
NM_001368144.2:c.-34C>G	NP_001355073.1:n.-34C>G