Canonical Allele Identifier: CA3732746

Gene: CYP21A2

Linked Data

• dbSNP Id: rs757700952
• ExAC: 6:32008915 G / A
• gnomAD v2: 6-32008915-G-A
• gnomAD v4: 6-32041138-G-A
• MyVariant Identifiers: chr6:g.32008915G>A (hg19) ; chr6:g.32041138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041138G>A , CM000668.2:g.32041138G>A	GRCh38
NC_000006.11:g.32008915G>A , CM000668.1:g.32008915G>A	GRCh37
NC_000006.10:g.32116894G>A	NCBI36
NG_007941.2:g.7831G>A
NG_008337.2:g.73237C>T
NG_007941.3:g.7834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*4G>A MANE Select	ENSP00000496625.1:n.*4G>A
ENST00000418967.6:c.*4G>A	ENSP00000408860.2:n.*4G>A
ENST00000435122.3:c.*4G>A	ENSP00000415043.2:n.*4G>A
ENST00000479074.5:n.1633G>A
ENST00000479730.5:n.1608G>A
ENST00000483041.5:n.1661G>A
ENST00000486063.5:n.1471G>A
NM_000500.7:c.*4G>A	NP_000491.4:n.*4G>A
NM_001128590.3:c.*4G>A	NP_001122062.3:n.*4G>A
XM_011514314.1:c.*4G>A	XP_011512616.1:n.*4G>A
NM_000500.9:c.*4G>A MANE Select	NP_000491.4:n.*4G>A
NM_001368143.1:c.*4G>A	NP_001355072.1:n.*4G>A
NM_001368144.1:c.*4G>A	NP_001355073.1:n.*4G>A
NM_001128590.4:c.*4G>A	NP_001122062.3:n.*4G>A
NM_001368143.2:c.*4G>A	NP_001355072.1:n.*4G>A
NM_001368144.2:c.*4G>A	NP_001355073.1:n.*4G>A