Canonical Allele Identifier: CA3732728

Gene: CYP21A2

Linked Data

• dbSNP Id: rs184649564
• ExAC: 6:32008862 G / A
• gnomAD v2: 6-32008862-G-A
• gnomAD v3: 6-32041085-G-A
• gnomAD v4: 6-32041085-G-A
• MyVariant Identifiers: chr6:g.32008862G>A (hg19) ; chr6:g.32041085G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041085G>A , CM000668.2:g.32041085G>A	GRCh38
NC_000006.11:g.32008862G>A , CM000668.1:g.32008862G>A	GRCh37
NC_000006.10:g.32116841G>A	NCBI36
NG_007941.2:g.7778G>A
NG_008337.2:g.73290C>T
NG_007941.3:g.7781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1439G>A MANE Select	ENSP00000496625.1:p.Arg480Gln
ENST00000418967.6:c.1439G>A	ENSP00000408860.2:p.Arg480Gln
ENST00000435122.3:c.1349G>A	ENSP00000415043.2:p.Arg450Gln
ENST00000479074.5:n.1580G>A
ENST00000479730.5:n.1555G>A
ENST00000483041.5:n.1608G>A
ENST00000486063.5:n.1418G>A
NM_000500.7:c.1439G>A	NP_000491.4:p.Arg480Gln
NM_001128590.3:c.1349G>A	NP_001122062.3:p.Arg450Gln
XM_011514314.1:c.1034G>A	XP_011512616.1:p.Arg345Gln
NM_000500.9:c.1439G>A MANE Select	NP_000491.4:p.Arg480Gln
NM_001368143.1:c.1034G>A	NP_001355072.1:p.Arg345Gln
NM_001368144.1:c.1034G>A	NP_001355073.1:p.Arg345Gln
NM_001128590.4:c.1349G>A	NP_001122062.3:p.Arg450Gln
NM_001368143.2:c.1034G>A	NP_001355072.1:p.Arg345Gln
NM_001368144.2:c.1034G>A	NP_001355073.1:p.Arg345Gln