Canonical Allele Identifier: CA3732595

Gene: CYP21A2

Linked Data

• dbSNP Id: rs779090292
• ExAC: 6:32008170 G / T
• gnomAD v2: 6-32008170-G-T
• gnomAD v4: 6-32040393-G-T
• MyVariant Identifiers: chr6:g.32008170G>T (hg19) ; chr6:g.32040393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040393G>T , CM000668.2:g.32040393G>T	GRCh38
NC_000006.11:g.32008170G>T , CM000668.1:g.32008170G>T	GRCh37
NC_000006.10:g.32116149G>T	NCBI36
NG_007941.2:g.7086G>T
NG_008337.2:g.73982C>A
NG_007941.3:g.7089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.940-13G>T MANE Select	ENSP00000496625.1:n.940-13G>T
ENST00000418967.6:c.940-13G>T	ENSP00000408860.2:n.940-13G>T
ENST00000435122.3:c.850-13G>T	ENSP00000415043.2:n.850-13G>T
ENST00000479074.5:n.998-13G>T
ENST00000479730.5:n.1056-13G>T
ENST00000483041.5:n.1109-13G>T
ENST00000486063.5:n.919-13G>T
NM_000500.7:c.940-13G>T	NP_000491.4:n.940-13G>T
NM_001128590.3:c.850-13G>T	NP_001122062.3:n.850-13G>T
XM_011514314.1:c.535-13G>T	XP_011512616.1:n.535-13G>T
NM_000500.9:c.940-13G>T MANE Select	NP_000491.4:n.940-13G>T
NM_001368143.1:c.535-13G>T	NP_001355072.1:n.535-13G>T
NM_001368144.1:c.535-13G>T	NP_001355073.1:n.535-13G>T
NM_001128590.4:c.850-13G>T	NP_001122062.3:n.850-13G>T
NM_001368143.2:c.535-13G>T	NP_001355072.1:n.535-13G>T
NM_001368144.2:c.535-13G>T	NP_001355073.1:n.535-13G>T