Canonical Allele Identifier: CA3732557

Gene: CYP21A2

Linked Data

• dbSNP Id: rs570785206
• ExAC: 6:32007899 G / A
• gnomAD v2: 6-32007899-G-A
• gnomAD v3: 6-32040122-G-A
• gnomAD v4: 6-32040122-G-A
• MyVariant Identifiers: chr6:g.32007899G>A (hg19) ; chr6:g.32040122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040122G>A , CM000668.2:g.32040122G>A	GRCh38
NC_000006.11:g.32007899G>A , CM000668.1:g.32007899G>A	GRCh37
NC_000006.10:g.32115878G>A	NCBI36
NG_007941.2:g.6815G>A
NG_008337.2:g.74253C>T
NG_007941.3:g.6818G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.856G>A MANE Select	ENSP00000496625.1:p.Ala286Thr
ENST00000418967.6:c.856G>A	ENSP00000408860.2:p.Ala286Thr
ENST00000435122.3:c.766G>A	ENSP00000415043.2:p.Ala256Thr
ENST00000479074.5:n.914G>A
ENST00000479730.5:n.972G>A
ENST00000483041.5:n.1025G>A
ENST00000486063.5:n.919-284G>A
NM_000500.7:c.856G>A	NP_000491.4:p.Ala286Thr
NM_001128590.3:c.766G>A	NP_001122062.3:p.Ala256Thr
XM_011514314.1:c.451G>A	XP_011512616.1:p.Ala151Thr
NM_000500.9:c.856G>A MANE Select	NP_000491.4:p.Ala286Thr
NM_001368143.1:c.451G>A	NP_001355072.1:p.Ala151Thr
NM_001368144.1:c.451G>A	NP_001355073.1:p.Ala151Thr
NM_001128590.4:c.766G>A	NP_001122062.3:p.Ala256Thr
NM_001368143.2:c.451G>A	NP_001355072.1:p.Ala151Thr
NM_001368144.2:c.451G>A	NP_001355073.1:p.Ala151Thr