Canonical Allele Identifier: CA3732376

Gene: CYP21A2

Linked Data

• dbSNP Id: rs780784265
• ExAC: 6:32006956 A / G
• gnomAD v2: 6-32006956-A-G
• gnomAD v3: 6-32039179-A-G
• gnomAD v4: 6-32039179-A-G
• MyVariant Identifiers: chr6:g.32006956A>G (hg19) ; chr6:g.32039179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039179A>G , CM000668.2:g.32039179A>G	GRCh38
NC_000006.11:g.32006956A>G , CM000668.1:g.32006956A>G	GRCh37
NC_000006.10:g.32114935A>G	NCBI36
NG_007941.2:g.5872A>G
NG_008337.2:g.75196T>C
NG_007941.3:g.5875A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.378A>G MANE Select	ENSP00000496625.1:p.Ser126=
ENST00000418967.6:c.378A>G	ENSP00000408860.2:p.Ser126=
ENST00000435122.3:c.288A>G	ENSP00000415043.2:p.Ser96=
ENST00000464325.5:n.299A>G
ENST00000466779.5:c.*70A>G	ENSP00000417321.1:n.*70A>G
ENST00000466879.5:n.429A>G
ENST00000469053.5:c.*70A>G	ENSP00000418104.1:n.*70A>G
ENST00000471671.4:c.378A>G	ENSP00000418561.1:p.Ser126=
ENST00000478281.5:c.411A>G	ENSP00000419572.1:p.Ser137=
ENST00000479074.5:n.436A>G
ENST00000479730.5:n.533A>G
ENST00000483041.5:n.547A>G
ENST00000486063.5:n.558A>G
ENST00000488465.1:n.386A>G
NM_000500.7:c.378A>G	NP_000491.4:p.Ser126=
NM_001128590.3:c.288A>G	NP_001122062.3:p.Ser96=
XM_011514314.1:c.-28A>G	XP_011512616.1:n.-28A>G
NM_000500.9:c.378A>G MANE Select	NP_000491.4:p.Ser126=
NM_001368143.1:c.-28A>G	NP_001355072.1:n.-28A>G
NM_001368144.1:c.-28A>G	NP_001355073.1:n.-28A>G
NM_001128590.4:c.288A>G	NP_001122062.3:p.Ser96=
NM_001368143.2:c.-28A>G	NP_001355072.1:n.-28A>G
NM_001368144.2:c.-28A>G	NP_001355073.1:n.-28A>G