Canonical Allele Identifier: CA3732324

Gene: CYP21A2

Linked Data

• dbSNP Id: rs561284668
• ExAC: 6:32006624 A / T
• gnomAD v2: 6-32006624-A-T
• gnomAD v3: 6-32038847-A-T
• gnomAD v4: 6-32038847-A-T
• MyVariant Identifiers: chr6:g.32006624A>T (hg19) ; chr6:g.32006624_32006625delinsTT (hg19) ; chr6:g.32038847A>T (hg38) ; chr6:g.32038847_32038848delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038847A>T , CM000668.2:g.32038847A>T	GRCh38
NC_000006.11:g.32006624A>T , CM000668.1:g.32006624A>T	GRCh37
NC_000006.10:g.32114603A>T	NCBI36
NG_007941.2:g.5540A>T
NG_007941.3:g.5543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+36A>T MANE Select	ENSP00000496625.1:n.292+36A>T
ENST00000418967.6:c.292+36A>T	ENSP00000408860.2:n.292+36A>T
ENST00000435122.3:c.202+223A>T	ENSP00000415043.2:n.202+223A>T
ENST00000464325.5:n.229+36A>T
ENST00000466779.5:c.292+36A>T	ENSP00000417321.1:n.292+36A>T
ENST00000466879.5:n.97A>T
ENST00000469053.5:c.202+223A>T	ENSP00000418104.1:n.202+223A>T
ENST00000471671.4:c.292+36A>T	ENSP00000418561.1:n.292+36A>T
ENST00000478281.5:c.292+36A>T	ENSP00000419572.1:n.292+36A>T
ENST00000479074.5:n.350+36A>T
ENST00000479730.5:n.447+36A>T
ENST00000480027.1:n.381A>T
ENST00000483041.5:n.442+36A>T
ENST00000486063.5:n.472+36A>T
ENST00000488465.1:n.300+36A>T
NM_000500.7:c.292+36A>T	NP_000491.4:n.292+36A>T
NM_001128590.3:c.202+223A>T	NP_001122062.3:n.202+223A>T
XM_011514314.1:c.-133+36A>T	XP_011512616.1:n.-133+36A>T
NM_000500.9:c.292+36A>T MANE Select	NP_000491.4:n.292+36A>T
NM_001368143.1:c.-133+36A>T	NP_001355072.1:n.-133+36A>T
NM_001368144.1:c.-133+223A>T	NP_001355073.1:n.-133+223A>T
NM_001128590.4:c.202+223A>T	NP_001122062.3:n.202+223A>T
NM_001368143.2:c.-133+36A>T	NP_001355072.1:n.-133+36A>T
NM_001368144.2:c.-133+223A>T	NP_001355073.1:n.-133+223A>T