Canonical Allele Identifier: CA363501847

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776072437
• gnomAD v4: 6-32039225-C-A
• MyVariant Identifiers: chr6:g.32007002C>A (hg19) ; chr6:g.32039225C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039225C>A , CM000668.2:g.32039225C>A	GRCh38
NC_000006.11:g.32007002C>A , CM000668.1:g.32007002C>A	GRCh37
NC_000006.10:g.32114981C>A	NCBI36
NG_007941.2:g.5918C>A
NG_008337.2:g.75150G>T
NG_007941.3:g.5921C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.424C>A MANE Select	ENSP00000496625.1:p.Gln142Lys
ENST00000418967.6:c.424C>A	ENSP00000408860.2:p.Gln142Lys
ENST00000435122.3:c.334C>A	ENSP00000415043.2:p.Gln112Lys
ENST00000462278.1:n.12C>A
ENST00000464325.5:n.345C>A
ENST00000466779.5:c.*116C>A	ENSP00000417321.1:n.*116C>A
ENST00000466879.5:n.475C>A
ENST00000469053.5:c.*116C>A	ENSP00000418104.1:n.*116C>A
ENST00000471671.4:c.424C>A	ENSP00000418561.1:p.Gln142Lys
ENST00000478281.5:c.457C>A	ENSP00000419572.1:p.Gln153Lys
ENST00000479074.5:n.482C>A
ENST00000479730.5:n.579C>A
ENST00000483041.5:n.593C>A
ENST00000486063.5:n.604C>A
ENST00000488465.1:n.432C>A
NM_000500.7:c.424C>A	NP_000491.4:p.Gln142Lys
NM_001128590.3:c.334C>A	NP_001122062.3:p.Gln112Lys
XM_011514314.1:c.19C>A	XP_011512616.1:p.Gln7Lys
NM_000500.9:c.424C>A MANE Select	NP_000491.4:p.Gln142Lys
NM_001368143.1:c.19C>A	NP_001355072.1:p.Gln7Lys
NM_001368144.1:c.19C>A	NP_001355073.1:p.Gln7Lys
NM_001128590.4:c.334C>A	NP_001122062.3:p.Gln112Lys
NM_001368143.2:c.19C>A	NP_001355072.1:p.Gln7Lys
NM_001368144.2:c.19C>A	NP_001355073.1:p.Gln7Lys