Canonical Allele Identifier: CA363505797

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1312971472
• gnomAD v2: 6-32007794-G-A
• gnomAD v4: 6-32040017-G-A
• MyVariant Identifiers: chr6:g.32007794G>A (hg19) ; chr6:g.32040017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040017G>A , CM000668.2:g.32040017G>A	GRCh38
NC_000006.11:g.32007794G>A , CM000668.1:g.32007794G>A	GRCh37
NC_000006.10:g.32115773G>A	NCBI36
NG_007941.2:g.6710G>A
NG_008337.2:g.74358C>T
NG_007941.3:g.6713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.751G>A MANE Select	ENSP00000496625.1:p.Ala251Thr
ENST00000418967.6:c.751G>A	ENSP00000408860.2:p.Ala251Thr
ENST00000435122.3:c.661G>A	ENSP00000415043.2:p.Ala221Thr
ENST00000479074.5:n.809G>A
ENST00000479730.5:n.867G>A
ENST00000483041.5:n.920G>A
ENST00000486063.5:n.918+182G>A
NM_000500.7:c.751G>A	NP_000491.4:p.Ala251Thr
NM_001128590.3:c.661G>A	NP_001122062.3:p.Ala221Thr
XM_011514314.1:c.346G>A	XP_011512616.1:p.Ala116Thr
NM_000500.9:c.751G>A MANE Select	NP_000491.4:p.Ala251Thr
NM_001368143.1:c.346G>A	NP_001355072.1:p.Ala116Thr
NM_001368144.1:c.346G>A	NP_001355073.1:p.Ala116Thr
NM_001128590.4:c.661G>A	NP_001122062.3:p.Ala221Thr
NM_001368143.2:c.346G>A	NP_001355072.1:p.Ala116Thr
NM_001368144.2:c.346G>A	NP_001355073.1:p.Ala116Thr