Canonical Allele Identifier: CA3732375

Gene: CYP21A2

Linked Data

• dbSNP Id: rs72552750
• ExAC: 6:32006952 G / A
• gnomAD v2: 6-32006952-G-A
• gnomAD v3: 6-32039175-G-A
• gnomAD v4: 6-32039175-G-A
• MyVariant Identifiers: chr6:g.32006952G>A (hg19) ; chr6:g.32039175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039175G>A , CM000668.2:g.32039175G>A	GRCh38
NC_000006.11:g.32006952G>A , CM000668.1:g.32006952G>A	GRCh37
NC_000006.10:g.32114931G>A	NCBI36
NG_007941.2:g.5868G>A
NG_008337.2:g.75200C>T
NG_007941.3:g.5871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.374G>A MANE Select	ENSP00000496625.1:p.Arg125His
ENST00000418967.6:c.374G>A	ENSP00000408860.2:p.Arg125His
ENST00000435122.3:c.284G>A	ENSP00000415043.2:p.Arg95His
ENST00000464325.5:n.295G>A
ENST00000466779.5:c.*66G>A	ENSP00000417321.1:n.*66G>A
ENST00000466879.5:n.425G>A
ENST00000469053.5:c.*66G>A	ENSP00000418104.1:n.*66G>A
ENST00000471671.4:c.374G>A	ENSP00000418561.1:p.Arg125His
ENST00000478281.5:c.407G>A	ENSP00000419572.1:p.Arg136His
ENST00000479074.5:n.432G>A
ENST00000479730.5:n.529G>A
ENST00000483041.5:n.543G>A
ENST00000486063.5:n.554G>A
ENST00000488465.1:n.382G>A
NM_000500.7:c.374G>A	NP_000491.4:p.Arg125His
NM_001128590.3:c.284G>A	NP_001122062.3:p.Arg95His
XM_011514314.1:c.-32G>A	XP_011512616.1:n.-32G>A
NM_000500.9:c.374G>A MANE Select	NP_000491.4:p.Arg125His
NM_001368143.1:c.-32G>A	NP_001355072.1:n.-32G>A
NM_001368144.1:c.-32G>A	NP_001355073.1:n.-32G>A
NM_001128590.4:c.284G>A	NP_001122062.3:p.Arg95His
NM_001368143.2:c.-32G>A	NP_001355072.1:n.-32G>A
NM_001368144.2:c.-32G>A	NP_001355073.1:n.-32G>A