Canonical Allele Identifier: CA3732306

Gene: CYP21A2

Linked Data

• dbSNP Id: rs766566786
• ExAC: 6:32006587 C / T
• gnomAD v2: 6-32006587-C-T
• gnomAD v4: 6-32038810-C-T
• MyVariant Identifiers: chr6:g.32006587C>T (hg19) ; chr6:g.32038810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038810C>T , CM000668.2:g.32038810C>T	GRCh38
NC_000006.11:g.32006587C>T , CM000668.1:g.32006587C>T	GRCh37
NC_000006.10:g.32114566C>T	NCBI36
NG_007941.2:g.5503C>T
NG_007941.3:g.5506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.291C>T MANE Select	ENSP00000496625.1:p.Thr97=
ENST00000418967.6:c.291C>T	ENSP00000408860.2:p.Thr97=
ENST00000435122.3:c.202+186C>T	ENSP00000415043.2:n.202+186C>T
ENST00000464325.5:n.228C>T
ENST00000466779.5:c.291C>T	ENSP00000417321.1:p.Thr97=
ENST00000466879.5:n.60C>T
ENST00000469053.5:c.202+186C>T	ENSP00000418104.1:n.202+186C>T
ENST00000471671.4:c.291C>T	ENSP00000418561.1:p.Thr97=
ENST00000478281.5:c.291C>T	ENSP00000419572.1:p.Thr97=
ENST00000479074.5:n.349C>T
ENST00000479730.5:n.446C>T
ENST00000480027.1:n.344C>T
ENST00000483041.5:n.441C>T
ENST00000486063.5:n.471C>T
ENST00000488465.1:n.299C>T
NM_000500.7:c.291C>T	NP_000491.4:p.Thr97=
NM_001128590.3:c.202+186C>T	NP_001122062.3:n.202+186C>T
XM_011514314.1:c.-134C>T	XP_011512616.1:n.-134C>T
NM_000500.9:c.291C>T MANE Select	NP_000491.4:p.Thr97=
NM_001368143.1:c.-134C>T	NP_001355072.1:n.-134C>T
NM_001368144.1:c.-133+186C>T	NP_001355073.1:n.-133+186C>T
NM_001128590.4:c.202+186C>T	NP_001122062.3:n.202+186C>T
NM_001368143.2:c.-134C>T	NP_001355072.1:n.-134C>T
NM_001368144.2:c.-133+186C>T	NP_001355073.1:n.-133+186C>T