Canonical Allele Identifier: CA363501477

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039192-G-T
• MyVariant Identifiers: chr6:g.32006969G>T (hg19) ; chr6:g.32039192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039192G>T , CM000668.2:g.32039192G>T	GRCh38
NC_000006.11:g.32006969G>T , CM000668.1:g.32006969G>T	GRCh37
NC_000006.10:g.32114948G>T	NCBI36
NG_007941.2:g.5885G>T
NG_008337.2:g.75183C>A
NG_007941.3:g.5888G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.391G>T MANE Select	ENSP00000496625.1:p.Gly131Cys
ENST00000418967.6:c.391G>T	ENSP00000408860.2:p.Gly131Cys
ENST00000435122.3:c.301G>T	ENSP00000415043.2:p.Gly101Cys
ENST00000464325.5:n.312G>T
ENST00000466779.5:c.*83G>T	ENSP00000417321.1:n.*83G>T
ENST00000466879.5:n.442G>T
ENST00000469053.5:c.*83G>T	ENSP00000418104.1:n.*83G>T
ENST00000471671.4:c.391G>T	ENSP00000418561.1:p.Gly131Cys
ENST00000478281.5:c.424G>T	ENSP00000419572.1:p.Gly142Cys
ENST00000479074.5:n.449G>T
ENST00000479730.5:n.546G>T
ENST00000483041.5:n.560G>T
ENST00000486063.5:n.571G>T
ENST00000488465.1:n.399G>T
NM_000500.7:c.391G>T	NP_000491.4:p.Gly131Cys
NM_001128590.3:c.301G>T	NP_001122062.3:p.Gly101Cys
XM_011514314.1:c.-15G>T	XP_011512616.1:n.-15G>T
NM_000500.9:c.391G>T MANE Select	NP_000491.4:p.Gly131Cys
NM_001368143.1:c.-15G>T	NP_001355072.1:n.-15G>T
NM_001368144.1:c.-15G>T	NP_001355073.1:n.-15G>T
NM_001128590.4:c.301G>T	NP_001122062.3:p.Gly101Cys
NM_001368143.2:c.-15G>T	NP_001355072.1:n.-15G>T
NM_001368144.2:c.-15G>T	NP_001355073.1:n.-15G>T