Canonical Allele Identifier: CA363498902

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 988330
• ClinVar RCV Id: RCV001269617
• dbSNP Id: rs9378251
• MyVariant Identifiers: chr6:g.32006291C>A (hg19) ; chr6:g.32038514C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038514C>A , CM000668.2:g.32038514C>A	GRCh38
NC_000006.11:g.32006291C>A , CM000668.1:g.32006291C>A	GRCh37
NC_000006.10:g.32114270C>A	NCBI36
NG_007941.2:g.5207C>A
NG_007941.3:g.5210C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.92C>A MANE Select	ENSP00000496625.1:p.Pro31Gln
ENST00000418967.6:c.92C>A	ENSP00000408860.2:p.Pro31Gln
ENST00000435122.3:c.92C>A	ENSP00000415043.2:p.Pro31Gln
ENST00000466779.5:c.92C>A	ENSP00000417321.1:p.Pro31Gln
ENST00000469053.5:c.92C>A	ENSP00000418104.1:p.Pro31Gln
ENST00000471671.4:c.92C>A	ENSP00000418561.1:p.Pro31Gln
ENST00000478281.5:c.92C>A	ENSP00000419572.1:p.Pro31Gln
ENST00000479074.5:n.150C>A
ENST00000479730.5:n.150C>A
ENST00000480027.1:n.145C>A
ENST00000483041.5:n.145C>A
ENST00000486063.5:n.175C>A
ENST00000488465.1:n.100C>A
NM_000500.7:c.92C>A	NP_000491.4:p.Pro31Gln
NM_001128590.3:c.92C>A	NP_001122062.3:p.Pro31Gln
XM_011514314.1:c.-333C>A	XP_011512616.1:n.-333C>A
NM_000500.9:c.92C>A MANE Select	NP_000491.4:p.Pro31Gln
NM_001368143.1:c.-333C>A	NP_001355072.1:n.-333C>A
NM_001368144.1:c.-243C>A	NP_001355073.1:n.-243C>A
NM_001128590.4:c.92C>A	NP_001122062.3:p.Pro31Gln
NM_001368143.2:c.-333C>A	NP_001355072.1:n.-333C>A
NM_001368144.2:c.-243C>A	NP_001355073.1:n.-243C>A