Canonical Allele Identifier: CA449818535

Gene: CYP21A2

Linked Data

• dbSNP Id: rs774906217
• gnomAD v2: 6-32006328-C-A
• gnomAD v4: 6-32038551-C-A
• MyVariant Identifiers: chr6:g.32006328C>A (hg19) ; chr6:g.32038551C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038551C>A , CM000668.2:g.32038551C>A	GRCh38
NC_000006.11:g.32006328C>A , CM000668.1:g.32006328C>A	GRCh37
NC_000006.10:g.32114307C>A	NCBI36
NG_007941.2:g.5244C>A
NG_007941.3:g.5247C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.129C>A MANE Select	ENSP00000496625.1:p.Pro43=
ENST00000418967.6:c.129C>A	ENSP00000408860.2:p.Pro43=
ENST00000435122.3:c.129C>A	ENSP00000415043.2:p.Pro43=
ENST00000466779.5:c.129C>A	ENSP00000417321.1:p.Pro43=
ENST00000469053.5:c.129C>A	ENSP00000418104.1:p.Pro43=
ENST00000471671.4:c.129C>A	ENSP00000418561.1:p.Pro43=
ENST00000478281.5:c.129C>A	ENSP00000419572.1:p.Pro43=
ENST00000479074.5:n.187C>A
ENST00000479730.5:n.187C>A
ENST00000480027.1:n.182C>A
ENST00000483041.5:n.182C>A
ENST00000486063.5:n.212C>A
ENST00000488465.1:n.137C>A
NM_000500.7:c.129C>A	NP_000491.4:p.Pro43=
NM_001128590.3:c.129C>A	NP_001122062.3:p.Pro43=
XM_011514314.1:c.-296C>A	XP_011512616.1:n.-296C>A
NM_000500.9:c.129C>A MANE Select	NP_000491.4:p.Pro43=
NM_001368143.1:c.-296C>A	NP_001355072.1:n.-296C>A
NM_001368144.1:c.-206C>A	NP_001355073.1:n.-206C>A
NM_001128590.4:c.129C>A	NP_001122062.3:p.Pro43=
NM_001368143.2:c.-296C>A	NP_001355072.1:n.-296C>A
NM_001368144.2:c.-206C>A	NP_001355073.1:n.-206C>A