Canonical Allele Identifier: CA363511283

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1214342122
• gnomAD v2: 6-32008477-T-A
• gnomAD v3: 6-32040700-T-A
• gnomAD v4: 6-32040700-T-A
• MyVariant Identifiers: chr6:g.32008477T>A (hg19) ; chr6:g.32040700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040700T>A , CM000668.2:g.32040700T>A	GRCh38
NC_000006.11:g.32008477T>A , CM000668.1:g.32008477T>A	GRCh37
NC_000006.10:g.32116456T>A	NCBI36
NG_007941.2:g.7393T>A
NG_008337.2:g.73675A>T
NG_007941.3:g.7396T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1151T>A MANE Select	ENSP00000496625.1:p.Val384Asp
ENST00000418967.6:c.1151T>A	ENSP00000408860.2:p.Val384Asp
ENST00000435122.3:c.1061T>A	ENSP00000415043.2:p.Val354Asp
ENST00000479074.5:n.1292T>A
ENST00000479730.5:n.1267T>A
ENST00000483041.5:n.1320T>A
ENST00000486063.5:n.1130T>A
NM_000500.7:c.1151T>A	NP_000491.4:p.Val384Asp
NM_001128590.3:c.1061T>A	NP_001122062.3:p.Val354Asp
XM_011514314.1:c.746T>A	XP_011512616.1:p.Val249Asp
NM_000500.9:c.1151T>A MANE Select	NP_000491.4:p.Val384Asp
NM_001368143.1:c.746T>A	NP_001355072.1:p.Val249Asp
NM_001368144.1:c.746T>A	NP_001355073.1:p.Val249Asp
NM_001128590.4:c.1061T>A	NP_001122062.3:p.Val354Asp
NM_001368143.2:c.746T>A	NP_001355072.1:p.Val249Asp
NM_001368144.2:c.746T>A	NP_001355073.1:p.Val249Asp